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Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700). We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease. These are two...

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Main Authors: Burwinkel, B, Bakker, H D, Herschkovitz, E, Moses, S W, Shin, Y S, Kilimann, M W
格式: Artigo
語言:Inglês
出版: 1998
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377030/
https://ncbi.nlm.nih.gov/pubmed/9529348
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