Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy

Ophthalmic Genetics

Volumn 32, Issue 3, 2011, Pages 151-155

  Kitiratschky, Veronique B D ^a   Glöckner, Christian Johannes ^b   Kohl, Susanne ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

cone dystrophy; cone rod dystrophy; GCAP 2; guanylate cyclase activating protein; GUCA1B gene

Indexed keywords

ASPARTIC ACID; CALMODULIN; GLUTAMIC ACID; GUANYLATE CYCLASE ACTIVATOR; GUANYLATE CYCLASE ACTIVATOR 1B; GUANYLYL CYCLASE ACTIVATING PROTEIN 1; GUANYLYL CYCLASE ACTIVATING PROTEIN 2; GUANYLYL CYCLASE ACTIVATING PROTEIN 3; ISOLEUCINE; LYSINE; NEURONAL CALCIUM SENSOR; NEURONAL CALCIUM SENSOR 1; RECOVERIN; TROPONIN C; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DNA SEQUENCE; EXON; GENE MUTATION; GENETIC SCREENING; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE BINDING SITE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA CONE; RETINA CONE DYSTROPHY; RETINA CONE ROD DYSTROPHY; RETINA DISEASE; RETINA MACULA DYSTROPHY;

DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GENES, DOMINANT; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; MUTATION; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 80051776204     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.559650     Document Type: Article

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