Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

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Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Detailed analysis of family wi ...... iated with new BEST1 mutation.

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Detailed analysis of family wi ...... iated with new BEST1 mutation.

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Detailed analysis of family wi ...... iated with new BEST1 mutation.

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Detailed analysis of family wi ...... iated with new BEST1 mutation.

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Detailed analysis of family wi ...... iated with new BEST1 mutation.

@en

Detailed analysis of family wi ...... iated with new BEST1 mutation.

@nl

P1476

Detailed analysis of family wi ...... iated with new BEST1 mutation.

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Atsushi Mizota

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Celso Soiti Matsumoto

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Daiki Kubota

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Hiroshi Takahashi

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Kei Shinoda

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Keiichiro Akeo

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Kiyoko Gocho

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Kunihiko Yamaki

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Michitaka Sugahara

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Sachiko Kikuchi

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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

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

Identification of the gene responsible for Best macular dystrophy

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

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

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

Bestrophin Cl- channels are highly permeable to HCO3-

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy

P2888

s10633-016-9540-3

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233-243

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scholarly article

case report

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10.1007/S10633-016-9540-3

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132

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2016-04-12T00:00:00Z

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301289066

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27071392

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4880638

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