Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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Applying next generation seque ...... ations in retinal dystrophies.

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label

Applying next generation seque ...... ations in retinal dystrophies.

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prefLabel

Applying next generation seque ...... ations in retinal dystrophies.

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P1476

Applying next generation seque ...... ations in retinal dystrophies.

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Amy Turriff

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Angela Villarta

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Chimere Roberson

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Hong He

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Keith Wetherby

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Kory R Johnson

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Leera D'Souza

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Wadih M Zein

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Xinjing Wang

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Yang C Fann

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P2860

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RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

P2888

s12886-017-0549-5

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157

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scholarly article

P356

10.1186/S12886-017-0549-5

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P478

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2017-08-24T00:00:00Z

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1091325933

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P698

28838317

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P921

microdroplet

P932

5571584

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