Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

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Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

P2860

Q55242203-2B4FFB71-7C1C-4FE5-AFAB-FCA5BE01ADAC

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Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

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http://www.wikidata.org/entity/Q46189588

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

@zh-hant

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Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

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Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

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Item

label

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

@en

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

@nl

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Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

@en

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

@nl

P1476

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

@en

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Andrew R Webster

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

Anthony T Moore

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Graham E Holder

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

Michel Michaelides

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Rajarshi Mukherjee

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

Sarah Hull

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P2860

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

RPE65 is the isomerohydrolase in the retinoid visual cycle

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Mutations in RPE65 cause Leber's congenital amaurosis

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Identification of the 11-cis-specific retinyl-ester synthase in retinal Müller cells as multifunctional O-acyltransferase (MFAT).

Long-term effect of gene therapy on Leber's congenital amaurosis.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

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1499-1505

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scholarly article

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10.1136/BJOPHTHALMOL-2015-308019

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English

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100

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A G Robson

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2016-02-23T00:00:00Z

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26906952

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Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

about

P2860

P2860

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698