A FRMD7 variant in a Japanese family causes congenital nystagmus

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A FRMD7 variant in a Japanese family causes 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

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

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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2015年论文

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A FRMD7 variant in a Japanese family causes congenital nystagmus

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A FRMD7 variant in a Japanese family causes congenital nystagmus

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A FRMD7 variant in a Japanese family causes congenital nystagmus

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A FRMD7 variant in a Japanese family causes congenital nystagmus

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A FRMD7 variant in a Japanese family causes congenital nystagmus

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A FRMD7 variant in a Japanese family causes congenital nystagmus

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P1476

A FRMD7 variant in a Japanese family causes congenital nystagmus

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P2093

Nana Okamoto

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Shigeko Satomura

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Takahide Komori

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Takuya Naruto

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Tomohiro Kohmoto

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Toshiaki Hashimoto

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P2860

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

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus

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

Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Congenital motor nystagmus linked to Xq26-q27.

A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.

P2888

hgv.2015.2

P304

15002

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P31

scholarly article

P356

10.1038/HGV.2015.2

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P478

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P50

Issei Imoto

P577

2015-02-12T00:00:00Z

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P5875

276375480

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P698

27081518

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P921

birth defect

P932

4785577

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