GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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The clinical evaluation of infantile nystagmus: What to do first and why.Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

P2860

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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name

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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P1476

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

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P2093

Dongjie Wang

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

Liming Wang

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

Ming Ying

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

Ningdong Li

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

Ruifang Han

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

Xiaojuan Wang

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

Zhongfang Yuan

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

P2860

Ocular albinism: evidence for a defect in an intracellular signal transduction system

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

OA1 mutations and deletions in X-linked ocular albinism

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.

Ocular albinism type 1: more than meets the eye.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

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srep12031

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12031

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scholarly article

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10.1038/SREP12031

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English

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2015-07-10T00:00:00Z

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279987200

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26160353

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P921

birth defect

P932

4498220

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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

about

P2860

P2860

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P577

P5875

P698

P921

P932