Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.

about

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

P2860

Q53370041-66FDF17C-7501-4DFF-8D8A-ECE266602D4B

P2860

Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.

Item

http://www.wikidata.org/entity/Q45158527

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh

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-hant

name

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@en

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@nl

type

Item

label

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@en

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@nl

prefLabel

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@en

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@nl

P1476

Phenotypic characterization of ...... d dystrophy related to GUCY2D.

@en

P2093

Fangtian Dong

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

Fei Xu

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

Hui Li

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

Ruifang Sui

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

Ruxin Jiang

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

Xin Li

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

P2860

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

The cone dysfunction syndromes.

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

Guanylate cyclases and associated activator proteins in retinal disease.

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

The molecular basis of human retinal and vitreoretinal diseases.

Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency.

Clinical subtypes of cone-rod dystrophy.

P2888

s10633-013-9383-0

P304

233-240

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

P31

scholarly article

P356

10.1007/S10633-013-9383-0

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

P433

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

P478

126

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

P577

2013-05-21T00:00:00Z

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

P6179

1003418049

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

P698

23686677

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

Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.

about

P2860

P2860

Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698