GAA mutants [lysosomal lumen]

Stable Identifier
Set [DefinedSet]
Homo sapiens
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
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
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
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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