New best1 mutations in autosomal recessive bestrophinopathy.
about
Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case SeriesUnilateral BEST1-Associated Retinopathy.BEST1: the Best Target for Gene and Cell Therapies.Bestrophinopathy: An RPE-photoreceptor interface disease.Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent Cl- currents in human RPE.Reply: To PMID 25545482.A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
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P2860
New best1 mutations in autosomal recessive bestrophinopathy.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
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2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
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name
New best1 mutations in autosomal recessive bestrophinopathy.
@ast
New best1 mutations in autosomal recessive bestrophinopathy.
@en
type
label
New best1 mutations in autosomal recessive bestrophinopathy.
@ast
New best1 mutations in autosomal recessive bestrophinopathy.
@en
prefLabel
New best1 mutations in autosomal recessive bestrophinopathy.
@ast
New best1 mutations in autosomal recessive bestrophinopathy.
@en
P2093
P2860
P1433
P1476
New best1 mutations in autosomal recessive bestrophinopathy.
@en
P2093
Adrian T Fung
Alfonso Giovannini
Carolyn Cai
Elena N Bukanova
Joanna E Merriam
Lawrence A Yannuzzi
Michael Nissen
Naomi Goldberg
Rando Allikmets
P2860
P304
P356
10.1097/IAE.0000000000000387
P577
2015-04-01T00:00:00Z