Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Jane Yates, Winifred Keeble, Gerard Pals, Najim Ameziane, Rosalina van Spaendonk, Susan Olson, Yassmine Akkari, Ricardo Pasquini, Grover Bagby

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analyses, we confirmed that two of these mutations inactivate the function of the FANCC protein. 2006 Wiley-Liss, Inc.

Original languageEnglish (US)
Number of pages1
JournalHuman mutation
Volume27
Issue number2
DOIs
StatePublished - Feb 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Yates, J., Keeble, W., Pals, G., Ameziane, N., van Spaendonk, R., Olson, S., Akkari, Y., Pasquini, R., & Bagby, G. (2006). Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. Human mutation, 27(2). https://doi.org/10.1002/humu.9402