A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
about
New best1 mutations in autosomal recessive bestrophinopathy.Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophyBestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
P2860
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
description
2012 nî lūn-bûn
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2012年の論文
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name
A novel compound heterozygous ...... vitelliform macular dystrophy.
@ast
A novel compound heterozygous ...... vitelliform macular dystrophy.
@en
type
label
A novel compound heterozygous ...... vitelliform macular dystrophy.
@ast
A novel compound heterozygous ...... vitelliform macular dystrophy.
@en
prefLabel
A novel compound heterozygous ...... vitelliform macular dystrophy.
@ast
A novel compound heterozygous ...... vitelliform macular dystrophy.
@en
P2093
P2860
P356
P1433
P1476
A novel compound heterozygous ...... vitelliform macular dystrophy.
@en
P2093
P2860
P2888
P304
P356
10.1038/EYE.2012.27
P577
2012-03-16T00:00:00Z