A mutation in guanylate cyclase activator 1A(GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 273-277

  Payne, Annette M ^a   Downes, Susan M ^a,b   Bessant, David A R ^a,b   Taylor, Rachel ^b   Holder, Graham E ^b   Warren, Martin J ^a   Bird, Alan C ^a,b   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; CYCLIC GMP; CYSTEINE; GUANYLATE CYCLASE ACTIVATOR; TYROSINE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 6P; CODON; CONTROLLED STUDY; EXON; HUMAN; HUMAN CELL; MISSENSE MUTATION; PEDIGREE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD;

AMINO ACID SEQUENCE; CALCIUM-BINDING PROTEINS; CHROMOSOMES, HUMAN, PAIR 6; CONES (RETINA); DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES; GENES, DOMINANT; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HIPPOCALCIN; HUMANS; LIPOPROTEINS; LOD SCORE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; RECOVERIN; RETINAL DEGENERATION;

EID: 0031974462     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.273     Document Type: Article

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