Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies
about
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisInvestigation of SLA4A3 as a candidate gene for human retinal diseaseExpanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaUnravelling the genetic basis of simplex Retinitis Pigmentosa cases.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Correction: exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
P2860
Q35975825-8D006162-3747-472D-A178-04645FE2FE8CQ36176309-3817D568-B96E-43D0-8EE7-02C2066D77C0Q36925839-A800ECCC-EE70-4E94-ADCC-3C71B4237435Q37145751-E1BA92D0-90E7-4C3D-A6DB-442C3CACDDF1Q37623694-FF84830B-3ACD-4F4C-8586-2AFCF6AF6C9DQ38937867-A5982550-E08E-431C-91C8-269C5E367FFAQ43188387-67CFE174-066A-402B-ABEB-7286D6902536
P2860
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Exome sequencing reveals novel ...... inherited retinal dystrophies
@ast
Exome sequencing reveals novel ...... inherited retinal dystrophies
@en
Exome sequencing reveals novel ...... inherited retinal dystrophies
@nl
type
label
Exome sequencing reveals novel ...... inherited retinal dystrophies
@ast
Exome sequencing reveals novel ...... inherited retinal dystrophies
@en
Exome sequencing reveals novel ...... inherited retinal dystrophies
@nl
prefLabel
Exome sequencing reveals novel ...... inherited retinal dystrophies
@ast
Exome sequencing reveals novel ...... inherited retinal dystrophies
@en
Exome sequencing reveals novel ...... inherited retinal dystrophies
@nl
P2093
P2860
P1433
P1476
Exome sequencing reveals novel ...... inherited retinal dystrophies
@en
P2093
Alicia Vela-Boza
Cristina Méndez-Vidal
Guillermo Antiñolo
Joaquin Dopazo
Salud Borrego
P2860
P304
P356
10.1371/JOURNAL.PONE.0116176
P407
P577
2014-12-29T00:00:00Z