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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Bibliografski detalji
Izdano u:Mol Genet Metab Rep
Glavni autori: Sheth, Jayesh, Mistri, Mehul, Datar, Chaitanya, Kalane, Umesh, Patil, Shekhar, Kamate, Mahesh, Shah, Harshuti, Nampoothiri, Sheela, Gupta, Sarita, Sheth, Frenny
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2014
Teme:
The Lysosome
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121347/
https://ncbi.nlm.nih.gov/pubmed/27896118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.09.004
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