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 Citations (Scopus)

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)
Pages (from-to)214
Number of pages1
JournalHuman Mutation
Volume27
Issue number2
StatePublished - Feb 2006

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Fanconi Anemia
Exons
Fanconi Anemia Complementation Group C Protein
Mutation
Heterozygote
Point Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Yates, J., Keeble, W., Pals, G., Ameziane, N., van Spaendonk, R., Olson, S., ... Bagby, G. (2006). Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. Human Mutation, 27(2), 214.

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. / Yates, Jane; Keeble, Winifred; Pals, Gerard; Ameziane, Najim; van Spaendonk, Rosalina; Olson, Susan; Akkari, Yassmine; Pasquini, Ricardo; Bagby, Grover.

In: Human Mutation, Vol. 27, No. 2, 02.2006, p. 214.

Research output: Contribution to journalArticle

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, vol. 27, no. 2, pp. 214.
Yates J, Keeble W, Pals G, Ameziane N, van Spaendonk R, Olson S et al. Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. Human Mutation. 2006 Feb;27(2):214.
Yates, Jane ; Keeble, Winifred ; Pals, Gerard ; Ameziane, Najim ; van Spaendonk, Rosalina ; Olson, Susan ; Akkari, Yassmine ; Pasquini, Ricardo ; Bagby, Grover. / Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. In: Human Mutation. 2006 ; Vol. 27, No. 2. pp. 214.
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