Genetics and molecular pathology of Stargardt-like macular degeneration.
about
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegiaExome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseIdentification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel AnalysisRetinal very long-chain PUFAs: new insights from studies on ELOVL4 proteinEndoplasmic reticulum stress and the unfolded protein responses in retinal degeneration.Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophiesMolecular diagnosis of putative Stargardt Disease probands by exome sequencingMetabolism of very long-chain Fatty acids: genes and pathophysiology.A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.Research resource: nuclear receptor atlas of human retinal pigment epithelial cells: potential relevance to age-related macular degenerationMolecular imaging of retinal disease.Stargardt-Fundus flavimaculatus: recent advancements and treatment.Mouse Models of Stargardt 3 Dominant Macular DegenerationA Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.
P2860
Q24297910-C95589ED-D376-4335-A4C3-5DBB146AD870Q28540924-52BE6CE2-8532-4109-A28F-F2B281C3C114Q28546422-1D28F9CF-C35E-4C82-A4E8-1FE46F1176EAQ33902007-F69D8780-E535-46AF-B7C4-BA07C52D2DE0Q34005691-97B20220-BF18-49ED-B73A-73AA3A3A5987Q34334822-C95F7358-14AD-41FD-8755-9756D607F1D0Q34366050-DD127E86-C40C-40D9-BCC4-D8E778930F33Q34416437-92592B32-A08A-4DE3-BF57-F53EEDEEBA55Q35103230-E1D04D98-2B7D-454B-B647-7CEBD2816FD4Q36067442-F8DB9941-2543-45BC-95FC-82DC9D664FA6Q36696874-5FD04573-3559-46E5-921C-BD678367CFDCQ38153732-5DD87A24-D4A4-4701-B5CB-7504BB29BB67Q38596864-25CCE700-D748-4CB6-BC07-B878FEA0E407Q46538670-6B8478F2-AC57-4191-8BDF-032EF73665F2Q49265040-B66C11CC-A469-4C63-8CDA-7548F363F2D9
P2860
Genetics and molecular pathology of Stargardt-like macular degeneration.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Genetics and molecular pathology of Stargardt-like macular degeneration.
@ast
Genetics and molecular pathology of Stargardt-like macular degeneration.
@en
Genetics and molecular pathology of Stargardt-like macular degeneration.
@nl
type
label
Genetics and molecular pathology of Stargardt-like macular degeneration.
@ast
Genetics and molecular pathology of Stargardt-like macular degeneration.
@en
Genetics and molecular pathology of Stargardt-like macular degeneration.
@nl
prefLabel
Genetics and molecular pathology of Stargardt-like macular degeneration.
@ast
Genetics and molecular pathology of Stargardt-like macular degeneration.
@en
Genetics and molecular pathology of Stargardt-like macular degeneration.
@nl
P2093
P2860
P1476
Genetics and molecular pathology of Stargardt-like macular degeneration.
@en
P2093
Radha Ayyagari
Vidyullatha Vasireddy
P2860
P304
P356
10.1016/J.PRETEYERES.2010.01.001
P577
2010-01-21T00:00:00Z