An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

Vision Research

Volumn 46, Issue 22, 2006, Pages 3845-3852

  Iannaccone, Alessandro ^a   Mura, Marco ^a   Dyka, Frank M ^b   Ciccarelli, Maria Laura ^c   Yashar, Beverly M ^d   Ayyagari, Radha ^d   Jablonski, Monica M ^a   Molday, Robert S ^b  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c FATEBENEFRATELLI HOSPITAL   (Italy)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Bipolar cell; Electroretinogram (ERG); Genetics; Retinoschisis; Tapetal like reflex

Indexed keywords

ADULT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CELLULAR DISTRIBUTION; ELECTRORETINOGRAM; EPIGENETICS; EYE MOVEMENT; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; IN VITRO STUDY; MALE; MUTATOR GENE; PHENOTYPE; PRIORITY JOURNAL; RETINA DISEASE; RETINA SHEEN; RETINOSCHISIS; RS1 GENE; TAPETAL LIKE REFLEX; VISUAL REFLEX; VISUAL SYSTEM; W112C GENE; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE;

CELLS, CULTURED; ELECTRORETINOGRAPHY; EYE PROTEINS; FLUORESCEIN ANGIOGRAPHY; GENES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; RETINA; RETINOSCHISIS;

EID: 33748689102     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.visres.2006.06.011     Document Type: Article

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