A novel missense RP1 mutation in retinitis pigmentosa.

A novel missense RP1 mutation in retinitis pigmentosa.

Item
http://www.wikidata.org/entity/Q36149592
Differential pattern of RP1 mutations in retinitis pigmentosa.A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degenerationIdentification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyMicroarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesIdentification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.Contribution of SNRNP200 sequence variations to retinitis pigmentosa.Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
P2860

A novel missense RP1 mutation in retinitis pigmentosa.

Item
http://www.wikidata.org/entity/Q36149592
description
2006 nî lūn-bûn
@nan
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
2006年论文
@zh
2006年论文
@zh-cn
name
A novel missense RP1 mutation in retinitis pigmentosa.
@ast
A novel missense RP1 mutation in retinitis pigmentosa.
@en
type
label
A novel missense RP1 mutation in retinitis pigmentosa.
@ast
A novel missense RP1 mutation in retinitis pigmentosa.
@en
prefLabel
A novel missense RP1 mutation in retinitis pigmentosa.
@ast
A novel missense RP1 mutation in retinitis pigmentosa.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698
P356
P1433
P1476
A novel missense RP1 mutation in retinitis pigmentosa.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698