Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyInherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.The genetic profile of Leber congenital amaurosis in an Australian cohort.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
P2860
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P2860
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
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2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@ast
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@en
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@nl
type
label
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@ast
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@en
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@nl
prefLabel
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@ast
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@en
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@nl
P2093
P2860
P1433
P1476
Advantage of Whole Exome Seque ...... in Leber Congenital Amaurosis.
@en
P2093
Brendan Keating
Craig Donaldson
Fengxiang Wang
Hakon Hakonarson
Ivan Prokudin
James Snyder
Jinlong Liang
Lifeng Tian
P2860
P304
P356
10.3109/13816810.2014.886269
P577
2014-02-19T00:00:00Z