GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.

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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

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GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

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Item

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GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

@en

GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

@nl

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GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

@en

GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

@nl

P1476

GUCY2D mutations in a Chinese ...... cone or cone-rod dystrophies.

@en

P2093

Feng Jiang

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Fengge Bai

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Ke Xu

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Xiaohui Zhang

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Yang Li

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Yue Xie

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P2860

Cone rod dystrophies

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis

Molecular genetics of Leber congenital amaurosis.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.

Guanylate cyclases and associated activator proteins in retinal disease.

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

P2888

s10633-015-9509-7

P304

105-114

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P31

scholarly article

P356

10.1007/S10633-015-9509-7

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P433

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P478

131

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P577

2015-08-23T00:00:00Z

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P698

26298565

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