A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

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A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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A unique case series of autoso ...... multigenerational inheritance.

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A unique case series of autoso ...... multigenerational inheritance.

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A unique case series of autoso ...... multigenerational inheritance.

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A unique case series of autoso ...... multigenerational inheritance.

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A unique case series of autoso ...... multigenerational inheritance.

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A unique case series of autoso ...... multigenerational inheritance.

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P1476

A unique case series of autoso ...... multigenerational inheritance.

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P2093

Ahmed B Sallam

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G Bradley Schaefer

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Joshua S Hardin

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M Kathryn Williams

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Sami Uwaydat

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P2860

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

The vitelliform macular dystrophy protein defines a new family of chloride channels.

Structure-function analysis of the bestrophin family of anion channels

Functional roles of bestrophins in ocular epithelia

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

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.

New best1 mutations in autosomal recessive bestrophinopathy.

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

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570-574

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scholarly article

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10.1080/13816810.2017.1318926

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P433

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P478

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P577

2017-05-08T00:00:00Z

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28481155

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