A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
about
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletionImpaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1Guanylate cyclases and associated activator proteins in retinal disease.Gene therapy for retinal diseaseAvailable Evidence on Leber Congenital Amaurosis and Gene Therapy.
P2860
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
description
2005 nî lūn-bûn
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2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
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2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@en
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@nl
type
label
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@en
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@nl
prefLabel
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@en
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@nl
P2093
P50
P356
P1433
P1476
A novel mutation in the GUCY2D ...... he usual GUCY2D-LCA phenotype.
@en
P2093
Beatrice Lebail
Dominique Ducroq
Fabienne Barbet
Jean-Louis Dufier
Patrice Vlajnik
Sylvain Hanein
P356
10.1002/HUMU.9304
P577
2005-02-01T00:00:00Z