Clinical course of cone dystrophy caused by mutations in the RPGR gene
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Retinal dystrophies, genomic applications in diagnosis and prospects for therapyGene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRLoss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsNon-syndromic retinal ciliopathies: translating gene discovery into therapy.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
P2860
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P2860
Clinical course of cone dystrophy caused by mutations in the RPGR gene
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2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Clinical course of cone dystrophy caused by mutations in the RPGR gene
@ast
Clinical course of cone dystrophy caused by mutations in the RPGR gene
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label
Clinical course of cone dystrophy caused by mutations in the RPGR gene
@ast
Clinical course of cone dystrophy caused by mutations in the RPGR gene
@en
prefLabel
Clinical course of cone dystrophy caused by mutations in the RPGR gene
@ast
Clinical course of cone dystrophy caused by mutations in the RPGR gene
@en
P2093
P2860
P1476
Clinical course of cone dystrophy caused by mutations in the RPGR gene
@en
P2093
Alberta A H J Thiadens
Anneke I den Hollander
Arthur A B Bergen
Frans C Riemslag
Gyan G Soerjoesing
L Ingeborgh van den Born
Ralph J Florijn
P2860
P2888
P304
P356
10.1007/S00417-011-1789-3
P577
2011-08-25T00:00:00Z