Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

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Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

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Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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name

Next-generation sequencing to ...... disease in extended families.

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Next-generation sequencing to ...... disease in extended families.

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Next-generation sequencing to ...... disease in extended families.

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Next-generation sequencing to ...... disease in extended families.

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David G Birch

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Dianna K Wheaton

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Kaylie D Jones

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Lori S Sullivan

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Rui Chen

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Sara J Bowne

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P2860

Retinitis pigmentosa

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

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470-481

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scholarly article

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Stephen P. Daiger

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2017-07-20T00:00:00Z

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28761320

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5524430

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Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

about

P2860

P2860

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

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