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Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.

Acid maltase, or acid alpha glucosidase (GAA), is a lysosomal enzyme that hydrolyzes glycogen to glucose and is deficient in glycogen storage disease type II. We have previously isolated a partial cDNA (1.9 kb) for human GAA and detected abnormalities of mRNA in two infantile-onset and one adult-ons...

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Autori principali: Martiniuk, F, Mehler, M, Tzall, S, Meredith, G, Hirschhorn, R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1990
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683757/
https://ncbi.nlm.nih.gov/pubmed/2112341
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