Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.

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Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

P2860

Q57471932-D6524A8F-A865-44E7-9CF5-ADE95F9671FD

P2860

Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.

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http://www.wikidata.org/entity/Q37363942

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2013 nî lūn-bûn

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2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh

2013年學術文章

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name

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@en

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@nl

type

Item

label

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@en

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@nl

prefLabel

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@en

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@nl

P1476

Two novel PRP31 premessenger r ...... ies with retinitis pigmentosa.

@en

P2093

Bing Dong

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

Fengge Bai

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

Jieqiong Chen

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

Xiaohui Zhang

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

Yang Li

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

Zhe Pan

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

P2860

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family

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

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa

Retinitis pigmentosa

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

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

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

P304

2426-2435

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scholarly article

P478

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2013-11-22T00:00:00Z

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24319336

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P932

3850970

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Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.

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P2860

P2860

Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P478

P577

P698

P932

P1433

P1476

P2093

P2860

P304

P31

P478

P577

P698

P932