Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Lysosomal acid alpha-glucosidase (EC 3.2.1.3) hydrolyzes 1,4-linked alpha-D-glucose polymers present in glycogen. Genetic deficiency of acid alpha-glucosidase results in glycogen-storage disease type II, encompassing a spectrum of disorders of varying severity. To study the molecular basis for this...

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Main Authors: Martiniuk, F, Mehler, M, Pellicer, A, Tzall, S, La Badie, G, Hobart, C, Ellenbogen, A, Hirschhorn, R
Format: Artigo
Jezik:Inglês
Izdano: 1986
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC387196/
https://ncbi.nlm.nih.gov/pubmed/3540946
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