Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Item
http://www.wikidata.org/entity/Q34328447
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.SAQC: SNP array quality control.Retinitis pigmentosa and allied conditions today: a paradigm of translational researchAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesWhole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31
P2860

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Item
http://www.wikidata.org/entity/Q34328447
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
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@ast
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@en
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@nl
type
label
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@ast
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@en
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@nl
prefLabel
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@ast
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@en
Comprehensive SNP-chip for ret ...... of mutational founder effects.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Comprehensive SNP-chip for ret ...... of mutational founder effects
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932