Detection of mosaic RB1 mutations in families with retinoblastoma

Human Mutation

Volumn 30, Issue 5, 2009, Pages 842-851

  Rushlow, Diane ^a   Piovesan, Beata ^a   Zhang, Katherine ^a   Prigoda Lee, Nadia L ^a   Marchong, Mellone N ^b,c   Clark, Robin D ^d   Gallie, Brenda L ^a,b,c,e  

^a TORONTO WESTERN HOSPITAL   (Canada)

^b PRINCESS MARGARET HOSPITAL   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d CHILDREN S HOSPITAL LOS ANGELES   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Allele specific PCR; Genetic counseling; Genetic testing; Mosaicism; RBI gene; Retinoblastoma

Indexed keywords

DNA;

ARTICLE; ERROR; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; MOSAICISM; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINOBLASTOMA; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; POLYMERASE CHAIN REACTION; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 66749088102     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20940     Document Type: Article

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