Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype-phenotype correlations and impact on genetic counseling

Human Mutation

Volumn 28, Issue 1, 2007, Pages 81-91

  Pelletier, Valérie ^a   Jambou, Marguerite ^a   Delphin, Nathalie ^a   Zinovieva, Elena ^a   Stum, Morgane ^a   Gigarel, Nadine ^a   Dollfus, Hélène ^b   Hamel, Christian ^c   Toutain, Annick ^d   Dufier, Jean Louis ^a   Roche, Olivier ^a   Munnich, Arnold ^a   Bonnefont, Jean Paul ^a   Kaplan, Josseline ^a   Rozet, Jean Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL DE HAUTEPIERRE   (France)

^c HÔPITAL SAINT ELOI   (France)

^d UNIVERSITY HOSPITAL OF TOURS   (France)

Author keywords

Cone dystrophy; Retinitis pigmentosa; RP; RP2; RPGR; X linked; XLRP

Indexed keywords

ARTICLE; CHILD; COHORT ANALYSIS; DISEASE COURSE; FAMILY ASSESSMENT; FEMALE; FRANCE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REGULATOR GENE; RETINA CONE; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RP2 GENE; RPGR GENE; SEX DIFFERENCE; SIBLING; VISUAL IMPAIRMENT; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKAGE;

CHILD; CONES (RETINA); DECISION TREES; EYE PROTEINS; FAMILY; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, X-LINKED; GENETIC SCREENING; GENOTYPE; HUMANS; INHERITANCE PATTERNS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; RETINAL DISEASES; RETINITIS PIGMENTOSA; SIBLINGS;

EID: 33845937443     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20417     Document Type: Article

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