Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA). Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent. Of the causative GBA mutations, N370S is particularly fr...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Diaz, G A, Gelb, B D, Risch, N, Nygaard, T G, Frisch, A, Cohen, I J, Miranda, C S, Amaral, O, Maire, I, Poenaru, L, Caillaud, C, Weizberg, M, Mistry, P, Desnick, R J
Format: Artigo
Langue:Inglês
Publié: 2000
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378046/
https://ncbi.nlm.nih.gov/pubmed/10777718
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires