A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

Item
http://www.wikidata.org/entity/Q33776932
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.Structural and molecular bases of rod photoreceptor morphogenesis and disease.The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
P2860

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

Item
http://www.wikidata.org/entity/Q33776932
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին 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
A novel nonsense mutation in r ...... ecessive retinitis pigmentosa.
@ast
A novel nonsense mutation in r ...... ecessive retinitis pigmentosa.
@en
type
label
A novel nonsense mutation in r ...... ecessive retinitis pigmentosa.
@ast
A novel nonsense mutation in r ...... ecessive retinitis pigmentosa.
@en
prefLabel
A novel nonsense mutation in r ...... ecessive retinitis pigmentosa.
@ast
A novel nonsense mutation in r ...... ecessive retinitis pigmentosa.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
A novel nonsense mutation in r ...... recessive retinitis pigmentosa
@en
P2093
P2860
P304
P31
P356
10.3109/13816810.2010.535892
P433
P478
P50
P577
P698
P921