X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

Item
http://www.wikidata.org/entity/Q28291575
Q29037950
sameAs
DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafnessRP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatmentA novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRPhenotype in two families with RP3 associated with RPGR mutations.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
P2860

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

Item
http://www.wikidata.org/entity/Q28291575
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@ast
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@en
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@nl
type
label
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@ast
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@en
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@nl
altLabel
X-linked retinitis pigmentosa ...... edical School, Lublin, Poland.
@en
prefLabel
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@ast
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@en
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
X-linked retinitis pigmentosa ...... glycine to valine at codon 60
@en
X-linked retinitis pigmentosa ...... Medical School, Lublin, Poland
@en
P2093
P304
P31
P356
10.1016/S0161-6420(98)91231-3
P407
P433
P478
P577
P698