Genotype-phenotype correlations in hereditary familial retinoblastoma

Human Mutation

Volumn 28, Issue 3, 2007, Pages 284-293

  Taylor, Melissa ^a   Dehainault, Catherine ^a   Desjardins, Laurence ^a   Doz, François ^a   Levy, Christine ^a   Sastre, Xavier ^a   Couturier, Jérôme ^a   Stoppa Lyonnet, Dominique ^a   Houdayer, Claude ^a   Gauthier Villars, Marion ^a  

^a INSTITUT CURIE   (France)

Author keywords

Correlations; Expression level; Familial; Genotype; Hereditary; Phenotype; RB1; Retinoblastoma

Indexed keywords

ALLELE; ARTICLE; CANCER GENETICS; CLINICAL FEATURE; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATIENT SELECTION; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; PROMOTER REGION; RELATIVE; RETINOBLASTOMA; RNA ANALYSIS;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 13; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; GENES, RETINOBLASTOMA; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; PHENOTYPE; RETINAL NEOPLASMS; RETINOBLASTOMA; RNA SPLICE SITES;

EID: 33847214533     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20443     Document Type: Article

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