Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

Gaucher disease (GD) is the most prevalent lysosomal storage disease. This autosomal recessive trait results from the defective activity of acid beta-glucosidase (beta-Glc). Four different exonic point mutations have been identified as causal alleles for GD. To facilitate screening for these alleles...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Theophilus, B, Latham, T, Grabowski, G A, Smith, F I
Format: Artigo
Sprog:Inglês
Udgivet: 1989
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683351/
https://ncbi.nlm.nih.gov/pubmed/2502917
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker