Differential pattern of RP1 mutations in retinitis pigmentosa.
about
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degenerationIncreasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.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.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
P2860
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P2860
Differential pattern of RP1 mutations in retinitis pigmentosa.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին 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
Differential pattern of RP1 mutations in retinitis pigmentosa.
@ast
Differential pattern of RP1 mutations in retinitis pigmentosa.
@en
Differential pattern of RP1 mutations in retinitis pigmentosa.
@nl
type
label
Differential pattern of RP1 mutations in retinitis pigmentosa.
@ast
Differential pattern of RP1 mutations in retinitis pigmentosa.
@en
Differential pattern of RP1 mutations in retinitis pigmentosa.
@nl
prefLabel
Differential pattern of RP1 mutations in retinitis pigmentosa.
@ast
Differential pattern of RP1 mutations in retinitis pigmentosa.
@en
Differential pattern of RP1 mutations in retinitis pigmentosa.
@nl
P2093
P2860
P1433
P1476
Differential pattern of RP1 mutations in retinitis pigmentosa
@en
P2093
Chi Pui Pang
Jonathan P Law
Kwan Yi Chu
Li Jia Chen
Mingzhi Zhang
Ningli Wang
Pancy O S Tam
Sylvia W Y Chiang
Timothy Y Y Lai
P2860
P304
P577
2010-07-15T00:00:00Z