Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

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Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa.

P2860

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P2860

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

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http://www.wikidata.org/entity/Q53155688

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

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2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

@en

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

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type

Item

label

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

@en

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

@nl

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Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

@en

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

@nl

P1476

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

@en

P2093

Jiang Cao

http://www.w3.org/2001/XMLSchema#string

Muhammad Umar Ali

http://www.w3.org/2001/XMLSchema#string

Ping Xi Yuan

http://www.w3.org/2001/XMLSchema#string

P2860

Retinitis pigmentosa

A Part of the Human Genome Sequence

DNA sequencing with chain-terminating inhibitors

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

P2888

s13205-017-0878-3

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251

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scholarly article

P356

10.1007/S13205-017-0878-3

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P478

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Muhammad Saif Ur Rahman

P577

2017-07-18T00:00:00Z

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28721681

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5515732

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Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

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P2860

P2860

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932