Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Author:

Mistri Mehul,Tamhankar Parag M.,Sheth Frenny,Sanghavi Daksha,Kondurkar Pratima,Patil Swapnil,Idicula-Thomas Susan,Gupta Sarita,Sheth Jayesh

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference29 articles.

1. Novel Mutations, including the second most common in Japan, in the B-hexosaminidase A subunit gene, a simple screening of Japanese patients with Tay-sach’s disease. J. Hum.;A Tanaka;Genet,1999

2. Tay-sachs disease.;JA Fernades Filho;Arch Neurol,2004

3. The major defect in Ashkenazi Jews with Tay-sachs disease is an insertion in the gene for alpha-chain of beta-hexosaminidase.;R Myerowitz;J Biol Chem,1988

4. Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.;R Myerowitz;Science 232,1986

5. Tay-sachs disease carrier screening, prenatal diagnosis and the molecular era. An international perspective, 1970–1993. The International TSD data collection Network.;M Kaback;JAMA,1993

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