Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
about
Molecular Basis for Vitamin A Uptake and Storage in VertebratesThe retinal pigment epithelium in health and diseaseNovel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab familyNanoparticle-mediated gene transfer specific to retinal pigment epithelial cells.Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle.Outer Segment Thickness Predicts Visual Field Response to QLT091001 in Patients with RPE65 or LRAT Mutations.Complex binding pathways determine the regeneration of mammalian green cone opsin with a locked retinal analogue.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs
P2860
Q28076290-0E6FDE59-DEA2-4B9B-986F-84B5BCC5B18DQ33998365-B09CF46A-AEEE-41A5-BECF-36C8C708A9DAQ35178896-D9DDF9C4-A192-4EAA-A689-67ECE906A785Q35876917-79815632-F90A-4891-A807-7B676172C0EFQ37029752-D507FB6B-A701-4033-93BC-1A1E85B2BD18Q37235131-4CD204B4-ABD3-4054-B4A7-F0E210953C5AQ37598116-4B98877C-DDF2-4859-8E16-1D35B806AC4FQ37618639-A18026DD-A003-448E-B31D-4C6A0450D055Q38835275-915F925B-C859-423C-92A8-87055D3E348CQ41279930-437802BC-30B1-419A-A7A7-17437F52CD34Q41986906-CDA02BF8-757C-491C-A07C-C810958D3CEAQ42011942-9A5B416A-7225-4165-99DD-214DCCA648EEQ42798639-D8E92390-FEF2-4DBE-AAB4-623A91632A0AQ46831449-96CD6400-AB0F-4DAC-B302-07BBF9CF9ED7Q47561548-D2CF2469-2C35-4502-AE59-626528E3A299Q50288887-D62BD2C6-889F-4107-A416-9488BA100D6E
P2860
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Screening genes of the retinoi ...... in leber congenital amaurosis.
@ast
Screening genes of the retinoi ...... in leber congenital amaurosis.
@en
Screening genes of the retinoi ...... in leber congenital amaurosis.
@nl
type
label
Screening genes of the retinoi ...... in leber congenital amaurosis.
@ast
Screening genes of the retinoi ...... in leber congenital amaurosis.
@en
Screening genes of the retinoi ...... in leber congenital amaurosis.
@nl
prefLabel
Screening genes of the retinoi ...... in leber congenital amaurosis.
@ast
Screening genes of the retinoi ...... in leber congenital amaurosis.
@en
Screening genes of the retinoi ...... in leber congenital amaurosis.
@nl
P2093
P1476
Screening genes of the retinoi ...... in leber congenital amaurosis.
@en
P2093
Audrey Sénéchal
Bernard Arnaud
Carl Arndt
Christian Bazalgette
Christian P Hamel
Cécile Bazalgette
Eric Laurent
Ghyslaine Humbert
Marie-Odile Surget
Philippe Brabet
P304
P356
10.1016/J.AJO.2006.04.057
P407
P577
2006-10-01T00:00:00Z