GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-associ...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Jensen, Braden S., Willer, Tobias, Saade, Dimah N., Cox, Mary O., Mozaffar, Tahseen, Scavina, Mena, Stefans, Vikki A., Winder, Thomas L., Campbell, Kevin P., Moore, Steven A., Mathews, Katherine D.
Format: Artigo
Jezik:Inglês
Izdano: 2015
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4843780/
https://ncbi.nlm.nih.gov/pubmed/26310427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22898
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