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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Hlavní autoři:	Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2014-01-01
Edice:	Molecular Genetics and Metabolism Reports
Témata:	Tay–Sachs disease HEXA gene β-Hexosaminidase-A Lysosomal enzyme
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2214426914000627
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Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

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