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Article

Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon by exon" PCR mediated SSCP analysis.

Journal of clinical pathology - 1 Jun 2004

Braggio E, Bonvicino C R, Vargas F R, Ferman S, Eisenberg A L A, Seuánez H N

Abstract excerpt

AIMS: To carry out a retrospective study, screening for mutations of the entire coding region of RB1 and adjacent intronic regions in patients with retinoblastoma. METHODS: Mutation screening in DNA extracts of formalin fixed, paraffin wax embedded tissues of 28 patients using combined "exon by exon" polymerase chain reaction mediated single strand conformational polymorphism analysis, followed by DNA sequencing....

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Identifiers

PMID: 15166261
DOI: 10.1136/jcp.2003.014423
PMCID: PMC1770321

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CGA

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