A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy

Vision Research

Volumn 48, Issue 23-24, 2008, Pages 2425-2432

  Jiang, Li ^a   Wheaton, Dianna ^b   Bereta, Grzegorz ^c   Zhang, Kang ^d   Palczewski, Krzysztof ^c   Birch, David G ^b,e   Baehr, Wolfgang ^a,d  

^a UNIVERSITY OF UTAH   (United States)

^b RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Dominant cone dystrophy; EF hand motif; Electroretinography; Guanylate cyclase activating protein 1; Phototransduction

Indexed keywords

GUANYLATE CYCLASE ACTIVATOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CASE REPORT; DNA EXTRACTION; DOMINANT CONE DYSTROPHY; ELECTRORETINOGRAPHY; GENE; GENE MUTATION; GUCA1A GENE; HUMAN; MALE; MUTATION; N104K GENE; PHOTOTRANSDUCTION; PRIORITY JOURNAL; PROTEIN MOTIF; RETINA CONE; RETINA DYSTROPHY; VISUAL ACUITY;

ADULT; BASE SEQUENCE; CALCIUM; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; ENZYME ACTIVATION; GUANYLATE CYCLASE; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; LIGHT SIGNAL TRANSDUCTION; MALE; MIDDLE AGED; MOLECULAR STRUCTURE; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; RETINAL DEGENERATION;

EID: 53049099571     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.visres.2008.07.016     Document Type: Article

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