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

Article

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

American journal of human genetics - 1 Jul 1990

Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R

Abstract excerpt

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-...

Topics

Cell Line
DNA
Genetic Variation
Glucan 1,4-alpha-Glucosidase
Humans
Nucleic Acid Hybridization
RNA, Messenger

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