Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Item
http://www.wikidata.org/entity/Q33239006
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotypeIdentification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeGood epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesPanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaQuantitative genetics of age-related retinal degeneration: a second F1 intercross between the A/J and C57BL/6 strains.The retinal ciliopathies.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesRP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
P2860

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Item
http://www.wikidata.org/entity/Q33239006
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին 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
Three novel and the common Arg ...... ntosa in a Spanish population.
@ast
Three novel and the common Arg ...... ntosa in a Spanish population.
@en
type
label
Three novel and the common Arg ...... ntosa in a Spanish population.
@ast
Three novel and the common Arg ...... ntosa in a Spanish population.
@en
prefLabel
Three novel and the common Arg ...... ntosa in a Spanish population.
@ast
Three novel and the common Arg ...... ntosa in a Spanish population.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Three novel and the common Arg ...... ntosa in a Spanish population.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P698
P932