Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
about
Genes and genetic testing in hereditary ataxias.Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variationInfantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Systematic review of autosomal recessive ataxias and proposal for a classification.Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
P2860
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
description
2013 nî lūn-bûn
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name
Novel mutations in typical and ...... ve cerebellar ataxia families.
@en
Novel mutations in typical and ...... ve cerebellar ataxia families.
@nl
type
label
Novel mutations in typical and ...... ve cerebellar ataxia families.
@en
Novel mutations in typical and ...... ve cerebellar ataxia families.
@nl
prefLabel
Novel mutations in typical and ...... ve cerebellar ataxia families.
@en
Novel mutations in typical and ...... ve cerebellar ataxia families.
@nl
P2093
P2860
P356
P1433
P1476
Novel mutations in typical and ...... ve cerebellar ataxia families.
@en
P2093
A K Srivastava
P2860
P304
P356
10.1111/CGE.12279
P577
2013-10-13T00:00:00Z