The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese

Author:

Hechtman P.,Boulay B.,Bayleran J.,Andermann E.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff s disease in French-Canadians, juvenile Tay-Sachs disease in Lebanese Canadians and a Tay-Sachs screening program in the French-Canadian population;Andermann;Prog. Clin. Biol. Res.,1977

2. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexoaminidase A deficiency;Argov;Ann. Neurol.,1984

3. Identification of an altered splice site in Ashkenazi Tay-Sachs disease;Arpaia;Nature,1988

4. Infantile Tay-Sachs disease in French-Canada is caused by more than one mutant allele;Bayleran;Am. J. Hum. Genet.,1988

5. Tay-Sachs disease with hexosam-inidase A: characterization of the defective enzyme in two patients;Bayleran;Am. J. Hum. Genet.,1987

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1. Genetic Disorders in Lebanon;Genetic Disorders Among Arab Populations;2010

2. Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England;Clinical Chemistry;2007-03-01

3. Lysosomal Biogenesis and Disease;Lysosomal Storage Disorders;2007

4. 17. Naturally occurring mutations in GM2 gangliosidosis: A compendium;Tay-Sachs Disease;2001

5. Biochemical consequences of mutations causing the GM2 gangliosidoses;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1999-10

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