GAA mutants

Stable Identifier
R-HSA-5357599
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lysosomal lumen
Locations in the PathwayBrowser
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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

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

Am. J. Hum. Genet. 1991
1898413 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

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

Biochem. Biophys. Res. Commun. 1991
Participants
members
Disease
Name Identifier Synonyms
glycogen storage disease II 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