Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

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Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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Adult-Onset Vitelliform Macula ...... Vitelliform Macular Dystrophy

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Adult-Onset Vitelliform Macula ...... Vitelliform Macular Dystrophy

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Adult-Onset Vitelliform Macula ...... Vitelliform Macular Dystrophy

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Adult-Onset Vitelliform Macula ...... Vitelliform Macular Dystrophy

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Christopher Seungkyu Lee

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Ji Hwan Lee

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Joon Suk Lee

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Min Goo Lee

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P2860

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

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

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.

Bestrophin 1 and retinal disease.

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s41598-017-09629-9

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scholarly article

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10.1038/S41598-017-09629-9

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English

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2017-08-22T00:00:00Z

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28831140

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5567297

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