GAA mutants [lysosomal lumen]

Stable Identifier
Set [DefinedSet]
Homo sapiens
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1898413 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

Kroos, MA, Reuser, AJ, Hermans, MM, Oostra, BA, de Graaff, E, Wisselaar, HA

Biochem. Biophys. Res. Commun. 1991
1652892 Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele

Tzall, S, Zhong, N, Hirschhorn, R, Martiniuk, F

Am. J. Hum. Genet. 1991
Name Identifier Synonyms
glycogen storage disease II DOID:2752 Lysosomal alpha-1,4-glucosidase deficiency (disorder), deficiency of glucoamylase, glycogen storage disease type II, acid maltase deficiency, deficiency of maltase, Glycogen storage disease, type II (disorder), Pompe's disease, Generalized glycogenosis (disorder), Glycogenosis, type 2
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