Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20518/fullpdf
Reference20 articles.
1. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
2. Asymptomatic Gaucher Disease Implications for Large-Scale Screening
3. Hematologically Important Mutations: Gaucher Disease
4. 2001. Gaucher disease. In: editors. The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill, Inc. pp 3635-3668.
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3. Genetic Disorders in Lebanon;Genetic Disorders Among Arab Populations;2010
4. A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease;Journal of Applied Genetics;2008-12
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