Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

Human Mutation

Volumn 30, Issue 8, 2009, Pages

  Kitiratschky, Veronique B D ^a   Behnen, Petra ^b   Kellner, Ulrich ^c   Heckenlively, John R ^d   Zrenner, Eberhart ^a   Jägle, Herbert ^a   Kohl, Susanne ^a   Wissinger, Bernd ^a   Koch, Karl Wilhelm ^b  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF OLDENBURG   (Germany)

^c RetinaScience   (Germany)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Biochemical analysis; GCAP1; Genotype phenotype correlation; Guanylate cyclase activator; GUCA1A

Indexed keywords

CALCIUM; GUANYLATE CYCLASE; GUANYLATE CYCLASE ACTIVATOR;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME REGULATION; GENE MUTATION; GUCA1A GENE; HUMAN; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; STRUCTURAL GENE;

CALCIUM; FEMALE; GENOTYPE; GUANYLATE CYCLASE; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; SPECTROMETRY, FLUORESCENCE;

MAMMALIA;

EID: 67749108203     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21055     Document Type: Article

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