Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma

Familial Cancer

Volumn 8, Issue 1, 2009, Pages 55-58

  Mitter, Diana ^a   Rushlow, Diane ^b   Nowak, Inga ^a   Ansperger Rescher, Birgit ^a   Gallie, Brenda L ^b   Lohmann, Dietmar R ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Incomplete penetrance; Nonsense mediated decay; Premature termination mutations; RB1 gene; Retinoblastoma

Indexed keywords

PUROMYCIN;

ALLELE; ARTICLE; CANCER RISK; CASE REPORT; CHILD; EXON; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MALE; ONCOGENE; PRIORITY JOURNAL; RB1 GENE; RETINOBLASTOMA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; EXONS; GENES, RETINOBLASTOMA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PENETRANCE; RETINAL NEOPLASMS; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 59449090130     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-008-9198-4     Document Type: Article

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