Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
about
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone PhotoreceptorsUncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects.Genes and mutations causing retinitis pigmentosa.The complexities of ocular genetics.Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States.Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes.Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy.En face enhanced depth imaging optical coherence tomography features in adult onset foveomacular vitelliform dystrophy.
P2860
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P2860
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@ast
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
type
label
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@ast
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
prefLabel
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@ast
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
P2093
P2860
P1433
P1476
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
P2093
Bernhard H. F. Weber
Harald Schilling
Ute Felbor
P2860
P304
P356
10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J
P577
1997-01-01T00:00:00Z