Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
نویسندگان
چکیده
منابع مشابه
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 by us. The present study is aimed to determine additional mutations leading to Tay-Sachs disease ...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2014
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2014.09.004