Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation

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http://www.wikidata.org/entity/Q35891793
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelBestrophin 1 and retinal disease.Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.Induced Pluripotent Stem Cell Therapies for Degenerative Disease of the Outer Retina: Disease Modeling and Cell Replacement.Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesBEST1: the Best Target for Gene and Cell Therapies.Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States.Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophyDisease modeling studies using induced pluripotent stem cells: are we using enough controls?BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.Retinitis pigmentosa associated with a mutation in BEST1.Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
P2860

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation

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http://www.wikidata.org/entity/Q35891793
description
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
@zh-mo
2015年論文
@zh-tw
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2015年论文
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2015年论文
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name
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@ast
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@en
type
label
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@ast
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@en
prefLabel
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@ast
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P932
P356
P1433
P1476
Autosomal Recessive Bestrophin ...... nt With a Novel BEST1 Mutation
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P932