Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India
about
Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.Identification of deleterious nsSNPs in α, μ, π and θ class of GST family and their influence on protein structureStructural modeling and in silico analysis of human superoxide dismutase 2Medical genetics and genomic medicine in India: current status and opportunities ahead.Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.Clinical applications and implications of common and founder mutations in Indian subpopulations.Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
P2860
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P2860
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Identification of novel mutati ...... h Tay Sachs disease from India
@ast
Identification of novel mutati ...... h Tay Sachs disease from India
@en
Identification of novel mutati ...... h Tay Sachs disease from India
@nl
type
label
Identification of novel mutati ...... h Tay Sachs disease from India
@ast
Identification of novel mutati ...... h Tay Sachs disease from India
@en
Identification of novel mutati ...... h Tay Sachs disease from India
@nl
prefLabel
Identification of novel mutati ...... h Tay Sachs disease from India
@ast
Identification of novel mutati ...... h Tay Sachs disease from India
@en
Identification of novel mutati ...... h Tay Sachs disease from India
@nl
P2093
P2860
P1433
P1476
Identification of novel mutati ...... h Tay Sachs disease from India
@en
P2093
Daksha Sanghavi
Frenny Sheth
Jayesh Sheth
Mehul Mistri
Parag M Tamhankar
Pratima Kondurkar
Sarita Gupta
Susan Idicula-Thomas
Swapnil Patil
P2860
P304
P356
10.1371/JOURNAL.PONE.0039122
P407
P577
2012-01-01T00:00:00Z