X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
about
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypesTest-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked RetinoschisisA novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer.Structure/Psychophysical Relationships in X-Linked Retinoschisis.Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function.Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables.Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis.
P2860
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P2860
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@ast
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@en
type
label
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@ast
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@en
prefLabel
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@ast
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@en
P2093
P2860
P356
P1476
X-linked retinoschisis: RS1 mu ...... of 68 affected male subjects.
@en
P2093
Amy Turriff
Kristen Bowles
Paul A Sieving
Ronald A Bush
Susan Vitale
Yuri Sergeev
P2860
P304
P356
10.1167/IOVS.11-8115
P407
P577
2011-11-29T00:00:00Z