Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

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Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.CNGB3 mutations cause severe rod dysfunction.Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.

P2860

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P2860

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Item

http://www.wikidata.org/entity/Q51062868

description

2015 nî lūn-bûn

@nan

2015年の論文

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2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Congenital Achromatopsia and M ...... sive PDE6C Mutation (p.E591K).

@en

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation

@nl

type

Item

label

Congenital Achromatopsia and M ...... sive PDE6C Mutation (p.E591K).

@en

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation

@nl

prefLabel

Congenital Achromatopsia and M ...... sive PDE6C Mutation (p.E591K).

@en

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation

@nl

P1476

Congenital Achromatopsia and M ...... sive PDE6C Mutation (p.E591K).

@en

P2093

Hiroshi Tsuneoka

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

Kazuho Ikeo

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

Kazushige Tsunoda

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

Kazutoshi Yoshitake

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

Masaaki Furuno

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

Masakazu Akahori

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

Takaaki Hayashi

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

Takeshi Iwata

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

Yuri Sergeev

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

P2860

Genetic basis of total colourblindness among the Pingelapese islanders

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the γ-subunit

UCSF Chimera--a visualization system for exploratory research and analysis

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Electroretinograms in patients with achromatopsia.

P304

137-144

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P31

scholarly article

P356

10.3109/13816810.2014.991932

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

P433

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

P478

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

P50

Jo Nishino

Satoshi Katagiri

P577

2015-01-21T00:00:00Z

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

P698

25605338

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

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

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P2860

P2860

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698