Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.
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In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone PhotoreceptorsGenetic factors of age-related macular degeneration.Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosaThe special electrophysiological signs of inherited retinal dystrophiesCentral areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
P2860
Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.
description
2003 nî lūn-bûn
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name
Autosomal dominant central are ...... on in the peripherin/RDS gene.
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Autosomal dominant central are ...... on in the peripherin/RDS gene.
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type
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Autosomal dominant central are ...... on in the peripherin/RDS gene.
@en
Autosomal dominant central are ...... on in the peripherin/RDS gene.
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prefLabel
Autosomal dominant central are ...... on in the peripherin/RDS gene.
@en
Autosomal dominant central are ...... on in the peripherin/RDS gene.
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P2093
P1433
P1476
Autosomal dominant central are ...... on in the peripherin/RDS gene.
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P2093
Hiroshi Ohguro
Junji Kurotaki
Motoya Sato
Satsuki Yanagihashi
Yasuhiro Miyagawa
P304
P356
10.1001/ARCHOPHT.121.10.1458
P407
P577
2003-10-01T00:00:00Z