Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins...

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Bibliographic Details
Published in:J Med Genet
Main Authors: Walley, A J, Barth, M L, Ellis, I, Fensom, A H, Harris, A
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 1993
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016332/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8487270/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.4.280
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