Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
about
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.
P2860
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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name
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@en
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@nl
type
label
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@en
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@nl
prefLabel
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@en
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@nl
P2093
P50
P356
P1476
Nonsyndromic Retinal Dystrophy ...... Ciliary Transport Gene IFT140.
@en
P2093
Ajoy Sarkar
Andrew R Webster
Anthony T Moore
Dhani Tracey-White
F Lucy Raymond
Farrah Islam
Gavin Arno
Graham E Holder
Michel Michaelides
Sarah Hull
P304
P356
10.1167/IOVS.15-17976
P407
P577
2016-03-01T00:00:00Z