Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.

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Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

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Q39176827-84962E2B-D636-449F-8D70-0C0DC440646B Q51015659-BA66A6B4-11BA-4C9C-AC64-6804AE324DBC

P2860

Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.

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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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2015年论文

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name

Mutation analysis of BEST1 in ...... vitelliform macular dystrophy.

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Mutation analysis of BEST1 in ...... vitelliform macular dystrophy.

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Mutation analysis of BEST1 in ...... vitelliform macular dystrophy.

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P1476

Mutation analysis of BEST1 in ...... vitelliform macular dystrophy.

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Hiroshi Tsuneoka

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Mineo Kondo

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Takaaki Hayashi

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Takeshi Iwata

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Tamaki Gekka

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Tomokazu Takeuchi

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Yasuhiro Ohkuma

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P2860

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

Identification of the gene responsible for Best macular dystrophy

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

The mutation spectrum of the bestrophin protein--functional implications

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy.

A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.

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1577-1582

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scholarly article

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10.1136/BJOPHTHALMOL-2015-306830

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English

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Satoshi Katagiri

Tetsuju Sekiryu

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2015-07-22T00:00:00Z

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26201355

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Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.

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P2860

P2860

Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.

description

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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