Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
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Molecular diagnosis of putative Stargardt disease by capture next generation sequencingExome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseIdentification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel AnalysisComprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsDe Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaEvaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next-generation sequencing applied to rare diseases genomics.Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
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P2860
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
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2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին 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
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@ast
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@en
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@nl
type
label
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@ast
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@en
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@nl
prefLabel
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@ast
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@en
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@nl
P2093
P2860
P356
P1433
P1476
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
@en
P2093
Ariadna Martinez
Carolina Ortube
Deborah B Farber
Michael B Gorin
Samuel P Strom
Stanley F Nelson
Steven Nusinowitz
Yong-Qing Gao
Zugen Chen
P2860
P2888
P356
10.1186/1471-2350-13-67
P577
2012-08-03T00:00:00Z
P5875
P6179
1032228027