X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

Progress in Retinal and Eye Research

Volumn 31, Issue 3, 2012, Pages 195-212

  Molday, Robert S ^a   Kellner, Ulrich ^b   Weber, Bernhard H F ^c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b MVZ ADTC Siegburg GmbH   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Clinical diagnosis; Disease mechanisms; Gene therapy; Molecular genetics; Retinoschisin; X linked retinoschisis

Indexed keywords

DISCOIDIN; DISULFIDE; PARVOVIRUS VECTOR; RETINOSCHISIN;

AMINO TERMINAL SEQUENCE; CLINICAL FEATURE; ELECTRORETINOGRAPHY; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE SEQUENCE; GENE THERAPY; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STRUCTURE; PROTEIN SYNTHESIS; RETINA CELL; RETINOSCHISIS; REVIEW;

ANIMALS; DIAGNOSIS, DIFFERENTIAL; ELECTRORETINOGRAPHY; EYE PROTEINS; GENETIC DISEASES, X-LINKED; HUMANS; LECTINS; MALE; MICE; PROTOZOAN PROTEINS; RETINOSCHISIS;

EID: 84859941823     PISSN: 13509462     EISSN: 18731635     Source Type: Journal    
DOI: 10.1016/j.preteyeres.2011.12.002     Document Type: Review

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