Spectrum of retGC1 mutations in Leber's congenital amaurosis

European Journal of Human Genetics

Volumn 8, Issue 8, 2000, Pages 578-582

  Perrault, Isabelle ^a   Rozet, Jean Michel ^a   Gerber, Sylvie ^a   Ghazi, Imad ^a   Ducroq, Dominique ^a   Souied, Eric ^a   Leowski, Corinne ^b   Bonnemaison, Michèle ^b   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Institut National des Jeunes Aveugles   (France)

Author keywords

Dysfunction of the phototransduction cascade; Genetic heterogeneity; Genotype phenotype correlations; Leber's congenital amaurosis; Mutations in the retinal specific guanylate cyclase gene

Indexed keywords

CYCLIC GMP; GUANYLATE CYCLASE;

ARTICLE; BIRTH; CELL STIMULATION; CHROMOSOME 17P; CONGENITAL BLINDNESS; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HUMAN; LEBER CONGENITAL AMAUROSIS; LIGHT EXPOSURE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PHOTORECEPTOR; PHOTORECEPTOR CELL; PHOTOSTIMULATION; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; VISUAL DISORDER;

BLINDNESS; CHROMOSOMES, HUMAN, PAIR 17; CYCLIC GMP; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; GUANYLATE CYCLASE; HUMANS; MALE; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE; ROD OUTER SEGMENTS; SEQUENCE ANALYSIS, DNA;

EID: 0033870580     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200503     Document Type: Article

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