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Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations

✍ Scribed by Lei Wan; Chin-Moo Hsu; Chang-Hai Tsai; Cheng-Chun Lee; Wuh-Liang Hwu; Fuu-Jen Tsai


Book ID
116304149
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
86 KB
Volume
36
Category
Article
ISSN
1079-9796

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Mutation analysis of Gaucher disease pat
✍ Cormand, Bru; Harboe, Theresa L.; Gort, Laura; Campoy, Cristina; Blanco, Mariana πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 75 KB πŸ‘ 2 views

Gaucher disease (GD) is caused by a deficiency of ␀-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme. More than 100 mutations have been identified to date and their frequencies have been established in several populations, including Ashkenazi Jews, among whom the