Severe manifestations in carrier females in X linked retinitis pigmentosa.
about
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaVisual Function in Carriers of X-Linked Retinitis Pigmentosa.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaAge-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutationsGender specific issues in hereditary ocular disorders.Gene and cell-based therapies for inherited retinal disorders: An update.Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
P2860
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P2860
Severe manifestations in carrier females in X linked retinitis pigmentosa.
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@ast
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@en
type
label
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@ast
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@en
prefLabel
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@ast
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@en
P2093
P2860
P356
P1476
Severe manifestations in carrier females in X linked retinitis pigmentosa.
@en
P2093
Chatelin S
Michel-Awad A
Perrault I
P2860
P304
P356
10.1136/JMG.34.10.793
P407
P577
1997-10-01T00:00:00Z