Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained in muscle (type...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Shen, J, Bao, Y, Liu, H M, Lee, P, Leonard, J V, Chen, Y T
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507437/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8755644/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118799
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