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Spectrophotometric Methods for the Study of Eukaryotic Glycogen Metabolism
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Spectrophotometric Methods for the Study of Eukaryotic Glycogen Metabolism

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グルコース-6-ホスファタゼ遺伝子の変異により,グリコゲン貯蔵疾患1a型が発症する

K J Lei1, L L Shelly, C J Pan

  • 1Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.

Science (New York, N.Y.)
|October 22, 1993
PubMed
まとめ

1a型グリコゲン貯蔵症は,D-グルコース-6-ホスファタゼ (G6Pase) の欠乏から生じる. 研究者は,この酵素欠乏の原因となる特定の遺伝子変異を特定し,疾患の分子基盤を明らかにしました.

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