A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
about
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locusCone structure in retinal degeneration associated with mutations in the peripherin/RDS geneStructural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDSDetection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
P2860
Q28286831-1D4D3D19-EFA6-4C19-8E4A-DCB260200ADCQ30396169-4EAD11A2-3174-4614-A5F7-AF95AEE14111Q36839752-2D7055ED-D337-4E8F-9535-8D8E5119FAA7Q37641539-238F352D-B171-49FF-BAE0-AC2143696CE0Q39330616-5595ABC2-9363-4E67-8608-DAE5C6083D02Q42343559-29B37D55-5A7E-42E5-A0CD-E79356736220Q42633629-AD80A11B-6B32-4AC6-874A-A735DAAC2803Q48000434-D4DBC6C1-600F-4C94-8C70-234257731C6F
P2860
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@ast
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@en
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@nl
type
label
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@ast
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@en
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@nl
prefLabel
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@ast
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@en
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@nl
P2093
P2860
P1433
P1476
A point mutation in the RDS-pe ...... al areolar choroidal dystrophy
@en
P2093
M Carballo
M D De la Calzada
P2860
P356
10.3109/13816819509056911
P407
P577
1995-06-01T00:00:00Z