The phenotypic variability of HK1-associated retinal dystrophy.

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A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

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The phenotypic variability of HK1-associated retinal dystrophy.

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http://www.wikidata.org/entity/Q41203581

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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

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

@zh-cn

name

The phenotypic variability of HK1-associated retinal dystrophy.

@en

type

Item

label

The phenotypic variability of HK1-associated retinal dystrophy.

@en

prefLabel

The phenotypic variability of HK1-associated retinal dystrophy.

@en

P1476

The phenotypic variability of HK1-associated retinal dystrophy.

@en

P2093

Baiyu Li

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Emmanuel Y Chang

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Huajin Li

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Lee-Jun C Wong

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Lizhu Yang

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Mingchu Xu

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Richard A Lewis

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Rui Chen

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

Ruifang Sui

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

Shijing Wu

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P2860

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

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Analysis of protein-coding genetic variation in 60,706 humans

The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)

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scholarly article

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10.1038/S41598-017-07629-3

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English

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2017-08-01T00:00:00Z

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The phenotypic variability of HK1-associated retinal dystrophy.

about

P2860

P2860

The phenotypic variability of HK1-associated retinal dystrophy.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P577

P698

P932