The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

Glycogen-storage disease type II (GSDII) is caused by the deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the analysis of the mutant alleles in an American black patient with an adult form of GSDII (GM1935). The lysosomal alpha-glucosidase precursor of this patient ha...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Hermans, M M, de Graaff, E, Kroos, M A, Wisselaar, H A, Willemsen, R, Oostra, B A, Reuser, A J
Format: Artigo
Langue:Inglês
Publié: 1993
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1132230/
https://ncbi.nlm.nih.gov/pubmed/8094613
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires