A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisSynaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceTissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development.Multiple domains in the Crumbs Homolog 2a (Crb2a) protein are required for regulating rod photoreceptor size.Photoreceptor oxidative stress in hyperoxia-induced proliferative retinopathy accelerates rd8 degenerationToward a better understanding of human eye disease insights from the zebrafish, Danio rerio.CRB1 mutations in inherited retinal dystrophiesMutation survey of known LCA genes and loci in the Saudi Arabian populationNovel mutations of CRB1 in Chinese families presenting with retinal dystrophies.Mosaic Eyes is a novel component of the Crumbs complex and negatively regulates photoreceptor apical size.
P2860
Q24533664-A24F50C6-0158-41B3-8012-A56861C8E4FEQ24803520-1B71E168-53E2-4361-84E1-64F8B0BE08C3Q33314432-200AFB91-9BB0-49F0-9AFA-95AA403CC2BDQ33645024-148DB54F-E903-4294-81F9-70C25C834B05Q33865904-1D70A00E-385F-4F8A-8DC9-A358E61E3476Q35176354-667D55EB-6B65-4138-8A79-BA0006833581Q35800472-14777CCC-D931-491A-8E8E-892A3FD56B21Q37226498-10D91D60-38D6-4B00-B19B-9E839ADB55BEQ37686427-347C1E0A-48C4-4C55-9395-07A98D70F7B8Q39537977-3639C99A-3B9A-4ABB-B1F0-97BBA3BFDD9E
P2860
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
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2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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name
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@ast
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@en
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@nl
type
label
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@ast
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@en
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@nl
prefLabel
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@ast
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@en
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@nl
P2093
P2860
P50
P1433
P1476
A novel mutation disrupting th ...... ith Leber congenital amaurosis
@en
P2093
Dominique Ducroq
Fabienne Barbet
Jean Dufier
Jean Rozet
Joel Zlotogora
Stavit Shalev
Sylvain Hanein
P2860
P304
P356
10.1076/OPGE.23.4.225.13879
P407
P577
2002-12-01T00:00:00Z