Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma

Human Mutation

Volumn 28, Issue 2, 2007, Pages 159-167

  Sánchez Sánchez, Francisco ^a,e,f   Ramírez Castillejo, Carmen ^b   Weekes, Daniel B ^c   Beneyto, Magdalena ^d   Prieto, Félix ^d   Nájera, Carmen ^a   Mittnacht, Sibylle ^c  

^a UNIVERSITY OF VALENCIA   (Spain)

^b University of Castilla La Mancha   (Spain)

^c IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

^e UNIVERSITY OF CASTILLA LA MANCHA   (Spain)

^f Universidad de Castilla La Mancha   (Spain)

Author keywords

Alternative translation initiation; Frameshift mutation; Low penetrance; RB1; Retinoblastoma

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILDHOOD CANCER; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA SYNTHESIS; EYE TUMOR; FAMILY STUDY; FLUORESCENCE MICROSCOPY; FRAMESHIFT MUTATION; GENE; GENETIC COUNSELING; GENETIC TRANSCRIPTION; HUMAN; IMMUNOBLOTTING; INFANT; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOBLASTOMA; RNA TRANSLATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREEN FLUORESCENT PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PENETRANCE; PEPTIDE CHAIN INITIATION, TRANSLATIONAL; PHENOTYPE; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN; RNA, MESSENGER;

EID: 33846922302     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20394     Document Type: Article

References (47)

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