A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis [3]

Japanese Journal of Ophthalmology

Volumn 51, Issue 1, 2007, Pages 71-73

  Jin, Zi Bing ^a   Nao I, Nobuhisa ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

Author keywords

Retinoschisin; RSI gene; X linked retinoschisis

Indexed keywords

ADOLESCENT; ADULT; CASE REPORT; CHILD; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; FEMALE; GENE SEQUENCE; HUMAN; LETTER; MALE; NONSENSE MUTATION; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOSCHISIS; VISUAL ACUITY; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; RETINOSCHISIS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 33847126523     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-006-0387-0     Document Type: Letter

References (4)

1. CG Sauer A Gehrig R Warneke-Wittstock 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis Nat Genet 17 164 170
2. BH Weber H Schrewe LL Molday 2002 Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure Proc Natl Acad Sci U S A 99 6222 6227
3. D Pimenides ND George JR Yates 2005 X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients J Med Genet 42 e35
4. T Wang A Zhou CT Waters 2006 Molecular pathology of X-linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation Br J Ophthalmol 90 81 86