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...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2000
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378046/
https://ncbi.nlm.nih.gov/pubmed/10777718
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