A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 11, 2004, Pages 3863-3870

  Nishiguchi, Koji M ^a   Sokal, Izabela ^b   Yang, Lili ^d   Roychowdhury, Nirmalya ^d   Palczewski, Krzysztof ^b,c   Berson, Eliot I ^a   Dryja, Thaddeus P ^a   Baehr, Wolfgang ^d,e  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; GUANYLATE CYCLASE ACTIVATING PROTEIN 1; GUANYLATE CYCLASE ACTIVATOR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; DARK ADAPTATION; FLUORESCENCE SPECTROSCOPY; GCAP1 GENE; GCAP2 GENE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINITIS PIGMENTOSA;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BLOTTING, WESTERN; CALCIUM; CALCIUM-BINDING PROTEINS; CATTLE; CONES (RETINA); DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; GUANYLATE CYCLASE; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE; RETINAL DEGENERATION; SPECTROMETRY, FLUORESCENCE;

EID: 4444329802     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-0590     Document Type: Article

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