PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.

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PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.

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2017 nî lūn-bûn

@nan

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

@zh-cn

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PRPF3-Associated Autosomal Dom ...... tigenerational Chinese Family.

@en

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label

PRPF3-Associated Autosomal Dom ...... tigenerational Chinese Family.

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prefLabel

PRPF3-Associated Autosomal Dom ...... tigenerational Chinese Family.

@en

P1476

PRPF3-Associated Autosomal Dom ...... ltigenerational Chinese Family

@en

P2093

Haiwei Xu

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

Hong Guo

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

Xiaohong Meng

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P2860

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

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

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

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

Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.

CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.

P304

4156386

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P31

scholarly article

P356

10.1155/2017/4156386

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P478

2017

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P50

Qiyou Li

Shiying Li

Zhengqin Yin

P577

2017-08-07T00:00:00Z

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P698

28848678

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P932

5564071

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