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Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Southern blot hybridization analysis using a panel of human-hamster hybrids showed that human G6Pase...

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Udgivet i:J Clin Invest
Principais autores: Lei, K J, Pan, C J, Shelly, L L, Liu, J L, Chou, J Y
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294308/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8182131/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117192
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