A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hermans, M M, de Graaff, E, Kroos, M A, Wisselaar, H A, Willemsen, R, Oostra, B A, Reuser, A J
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1132230/
https://ncbi.nlm.nih.gov/pubmed/8094613
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!