Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified...

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Bibliographic Details
Main Authors: Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Tay–Sachs disease
HEXA gene
β-Hexosaminidase-A
Lysosomal enzyme
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000627

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