October 31, 2020
musagenomics

Spectrum of PAH gene mutations and genotype-phenotype

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a complex phenotype with many variants and genotypes among different populations. Shanxi province is a high-prevalence area of PAHD in China.
Methods: In this study, eighty-nine PAHD patients were subjected to genetic testing using Sanger sequencing, followed by multiplex ligation-dependent probe amplification analysis (MLPA). Allelic and genotypic phenotype values (APV and GPV, respectively) were used for genotype-based phenotypic prediction.
Results: Fifty-one types of variants, including three novel forms, were identified. The predominant variant was p.R243Q (22.09%), followed by p.R53H (10.47%), p.EX6-96A > G (9.30%), p.V399V (5.23%) and p.R413P (3.49%). Notably, mild hyperphenylalaninemia (MHP) has a high prevalence in this region (up to 45.76%), and the variant p.R53H was solely observed in patients of MHP. According to the genotype-phenotype prediction, the APV/GPV system was well correlated with the metabolic phenotype of most PAHD patients.
Conclusion: We have systematically constructed the mutational and phenotypic spectrum of PAH in Shanxi province. Hence, this study will help to further understand the genotype-phenotype associations in PAHD patients, and it may offer more reliable genetic counseling and management.
musagenomics
musagenomics

Genome Polyprotein Polyclonal Antibody

A56130 100 µg
EUR 570.55
Description: Ask the seller for details

Genome Polyprotein (HCV-Core) Antibody

33487-05111 150 ug
EUR 261.00

Genome Polyprotein Polyclonal Antibody, Biotin Conjugated

A68250 100 µg
EUR 570.55
Description: reagents widely cited

Genome Polyprotein Polyclonal Antibody, FITC Conjugated

A68251 100 µg
EUR 570.55
Description: Ask the seller for details

Genome Polyprotein Polyclonal Antibody, HRP Conjugated

A68252 100 µg
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Description: The best epigenetics products

Genome Polyprotein Polyclonal Antibody, HRP Conjugated

A68255 100 µg
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Description: Ask the seller for details

Genome Polyprotein Polyclonal Antibody, FITC Conjugated

A68256 100 µg
EUR 570.55
Description: The best epigenetics products

Genome Polyprotein Polyclonal Antibody, Biotin Conjugated

A68257 100 µg
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Description: kits suitable for this type of research

Genome Polyprotein Polyclonal Antibody, HRP Conjugated

A56744 100 µg
EUR 570.55
Description: The best epigenetics products

Genome Polyprotein Polyclonal Antibody, FITC Conjugated

A56745 100 µg
EUR 570.55
Description: kits suitable for this type of research

Genome Polyprotein Polyclonal Antibody, Biotin Conjugated

A56746 100 µg
EUR 570.55
Description: fast delivery possible

Genome Polyprotein Polyclonal Antibody, HRP Conjugated

A56131 100 µg
EUR 570.55
Description: The best epigenetics products

Genome Polyprotein Polyclonal Antibody, FITC Conjugated

A56132 100 µg
EUR 570.55
Description: kits suitable for this type of research

Genome Polyprotein Polyclonal Antibody, Biotin Conjugated

A56133 100 µg
EUR 570.55
Description: fast delivery possible

Genome Polyprotein (HCV-Core) Antibody (Biotin Conjugate)

33487-05121 150 ug
EUR 369.00

Genome Polyprotein (HCV-Core) AssayLite Antibody (FITC Conjugate)

33487-05141 150 ug
EUR 428.00

Genome Polyprotein (HCV-Core) AssayLite Antibody (RPE Conjugate)

33487-05151 150 ug
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Genome Polyprotein (HCV-Core) AssayLite Antibody (APC Conjugate)

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Genome Polyprotein (HCV-Core) AssayLite Antibody (PerCP Conjugate)

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RecQ-Mediated Genome Instability Protein 1 (RMI1) Antibody

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RecQ-Mediated Genome Instability Protein 2 (RMI2) Antibody

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CD11b Antibody Antibody

ABD2911 100 ug
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Anti-Glycolipid Antibody (AGA) Antibody

20-abx004855
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  • EUR 592.00
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Ly1 Antibody Reactive (LYAR) Antibody

20-abx008109
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Ly1 Antibody Reactive (LYAR) Antibody

20-abx014333
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FLI1 Antibody

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FLI1 Antibody

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GAD67 Antibody

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GAD67 Antibody

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Livin Antibody

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GANP Antibody

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GANP Antibody

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Gastrin Antibody

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Glucagon Antibody

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GluR4 Antibody

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GRP78 Antibody

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GRP78 Antibody

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Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions

The genetics care pathway experienced by families affected by autism spectrum disorder (ASD) around the time of diagnosis is currently uncharacterized and potentially variable across contexts. The lack of consensus on outcome measures to capture the impact of genetic services for these families shows a gap in understanding and optimizing this genetics care pathway.
The Genetic Counseling Outcome Scale (GCOS-24) is a validated outcome measure of clinical genetics services. The current study aims to adapt and validate the GCOS-24 as an outcome measure in the context routine genetic testing in ASD and related conditions. Families seen for their child’s developmental evaluation for ASD and related conditions were invited to participate in a genomics cohort between 2016 and 2018. Families (n = 111) completed the mGCOS-24 (modified GCOS-24), adapted from the original GCOS-24 by clinicians working in the target population’s routine care pathway.
The mGCOS-24 has acceptable internal consistency (Cronbach’s α = 0.84) and high test-retest reliability (ICC = 0.88). It also inversely correlates with stress as measured by Perceived Stress Scale (PSS-10) and distress, as measured by the Distress Thermometer, rs ≥ 0.39, ps < 0.001. The mGCOS-24 had adequate readability, as supported by cognitive interviews completed by a sub-sample of five mothers of a child with ASD.
Together, our findings show that the mGCOS-24 has good validity for the target population. Preliminary characterization of the genetics care pathway in this population revealed remarkable variability in pre-test counseling and limited post-test counseling. The use of the mGCOS-24 as an outcome measure is useful in filling some of these gaps by offering a way to assess, and in the future, optimize the genetics care pathway for families affected by autism and related neurodevelopmental conditions.

Potential causes and consequences of rapid mitochondrial genome evolution in thermoacidophilic Galdieria (Rhodophyta)

  • Background: The Cyanidiophyceae is an early-diverged red algal class that thrives in extreme conditions around acidic hot springs. Although this lineage has been highlighted as a model for understanding the biology of extremophilic eukaryotes, little is known about the molecular evolution of their mitochondrial genomes (mitogenomes).
  • Results: To fill this knowledge gap, we sequenced five mitogenomes from representative clades of Cyanidiophyceae and identified two major groups, here referred to as Galdieria-type (G-type) and Cyanidium-type (C-type). G-type mitogenomes exhibit the following three features: (i) reduction in genome size and gene inventory, (ii) evolution of unique protein properties including charge, hydropathy, stability, amino acid composition, and protein size, and (iii) distinctive GC-content and skewness of nucleotides. Based on GC-skew-associated characteristics, we postulate that unidirectional DNA replication may have resulted in the rapid evolution of G-type mitogenomes.
  • Conclusions: The high divergence of G-type mitogenomes was likely driven by natural selection in the multiple extreme environments that Galdieria species inhabit combined with their highly flexible heterotrophic metabolism. We speculate that the interplay between mitogenome divergence and adaptation may help explain the dominance of Galdieria species in diverse extreme habitats.

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Description: Purified recombinant PSMB8 protein

[KO Validated] PSMB8 Rabbit pAb

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Proteasome Subunit Beta Type-8 (PSMB8) Antibody

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Proteasome Subunit Beta Type-8 (PSMB8) Antibody

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CD11b Antibody Antibody

ABD2911 100 ug
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Anti-Glycolipid Antibody (AGA) Antibody

20-abx004855
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  • EUR 592.00
  • EUR 182.00
  • EUR 314.00
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Ly1 Antibody Reactive (LYAR) Antibody

20-abx008109
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  • EUR 439.00
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Ly1 Antibody Reactive (LYAR) Antibody

20-abx014333
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
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  • 0
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FLI1 Antibody

33376-100ul 100ul
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FLI1 Antibody

33376-50ul 50ul
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GAD67 Antibody

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GAD67 Antibody

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Livin Antibody

3338-100
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GANP Antibody

33383-100ul 100ul
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GANP Antibody

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Gastrin Antibody

33384-100ul 100ul
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Gastrin Antibody

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Glucagon Antibody

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Glucagon Antibody

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GluR4 Antibody

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GluR4 Antibody

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GluR5 Antibody

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GluR5 Antibody

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GluR6 Antibody

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GluR6 Antibody

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GluR7 Antibody

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GluR7 Antibody

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GluR8 Antibody

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GluR8 Antibody

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GLUT1 Antibody

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GLUT3 Antibody

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GLUT3 Antibody

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GRP78 Antibody

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GRP78 Antibody

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HDAC1 Antibody

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HDAC10 Antibody

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p53DINP1 Antibody

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p53DINP1 Antibody

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HDAC3 Antibody

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HDAC9 Antibody

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HDAC9 Antibody

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HSP10 Antibody

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HSP10 Antibody

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HSP105 Antibody

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HSP40 Antibody

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HSP40 Antibody

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HSP60 Antibody

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HSP60 Antibody

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Involucrin Antibody

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Involucrin Antibody

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JAB1 Antibody

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JM4 Antibody

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JM4 Antibody

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EUR 187.00

Ki67 Antibody

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Ki67 Antibody

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EUR 187.00

iNOS Antibody

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iNOS Antibody

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Ku70 Antibody

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Ku70 Antibody

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Mammaglobin Antibody

33427-100ul 100ul
EUR 252.00

Mammaglobin Antibody

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EUR 187.00

MCL1 Antibody

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EUR 252.00

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EUR 187.00

MCM2 Antibody

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MCM5 Antibody

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MDM2 Antibody

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MDM2 Antibody

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NCK2 Antibody

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NCK2 Antibody

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NKX3.1 Antibody

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NKX3.1 Antibody

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NM23 Antibody

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NM23 Antibody

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NRF2 Antibody

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NRF2 Antibody

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NSE Antibody

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Osteopontin Antibody

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Osteopontin Antibody

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p300 Antibody

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p300 Antibody

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FasL Antibody

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FasL Antibody

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EUR 146.00

FAF1 Antibody

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FAF1 Antibody

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p63 Antibody

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p63 Antibody

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Parkin Antibody

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Parkin Antibody

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Patched Antibody

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PCNA Antibody

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PDGFB Antibody

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Peripherin Antibody

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Peripherin Antibody

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PGP9.5 Antibody

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RCC1 Antibody

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RCC1 Antibody

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TANK Antibody

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TANK Antibody

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RIT1 Antibody

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SHIP Antibody

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SNAP25 Antibody

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Syk Antibody

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Syk Antibody

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Synaptophysin Antibody

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TIMP1 Antibody

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TIMP2 Antibody

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TIMP3 Antibody

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TIMP3 Antibody

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AOS1 Antibody

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AOS1 Antibody

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CD40 Antibody

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CD40 Antibody

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CDK7 Antibody

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CDK7 Antibody

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EDD Antibody

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EDD Antibody

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EUR 187.00

PCNA Antibody

3350R-100
EUR 354.00

PCNA Antibody

3350R-30T
EUR 146.00

FAS Antibody

33510-100ul 100ul
EUR 252.00

FAS Antibody

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HAT Antibody

33511-100ul 100ul
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HAT Antibody

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EUR 187.00

NCoR1 Antibody

33512-100ul 100ul
EUR 252.00

NCoR1 Antibody

33512-50ul 50ul
EUR 187.00

NEDD8 Antibody

33513-100ul 100ul
EUR 252.00

NEDD8 Antibody

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NYREN18 Antibody

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NYREN18 Antibody

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EUR 187.00

PIAS1 Antibody

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PIAS1 Antibody

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PIAS2 Antibody

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PIAS2 Antibody

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PIAS3 Antibody

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EUR 252.00

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PIAS4 Antibody

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PIAS4 Antibody

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SENP1 Antibody

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SENP1 Antibody

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EUR 187.00

SENP3 Antibody

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EUR 252.00

SENP3 Antibody

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EUR 187.00

SENP5 Antibody

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EUR 252.00

SENP5 Antibody

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EUR 187.00

SENP6 Antibody

33522-100ul 100ul
EUR 252.00

SENP6 Antibody

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SENP7 Antibody

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EUR 252.00

SENP7 Antibody

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EUR 187.00

SENP8 Antibody

33524-100ul 100ul
EUR 252.00

SENP8 Antibody

33524-50ul 50ul
EUR 187.00

Sumo1 Antibody

33525-100ul 100ul
EUR 252.00

Sumo1 Antibody

33525-50ul 50ul
EUR 187.00

TIMP4 Antibody

33526-100ul 100ul
EUR 252.00

TIMP4 Antibody

33526-50ul 50ul
EUR 187.00

TRADD Antibody

33529-100ul 100ul
EUR 252.00

TRADD Antibody

33529-50ul 50ul
EUR 187.00

TRXR2 Antibody

33530-100ul 100ul
EUR 252.00

TRXR2 Antibody

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EUR 187.00

Tyrosinase Antibody

33534-100ul 100ul
EUR 252.00

Tyrosinase Antibody

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EUR 187.00

Uba2 Antibody

33535-100ul 100ul
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Uba2 Antibody

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UBE1L Antibody

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UBE1L Antibody

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Ubiquitin Antibody

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EUR 252.00

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