Article
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
Human mutation - 1 Feb 2006
Yates Jane, Keeble Winifred, Pals Gerard, Ameziane Najim, van Spaendonk Rosalina, Olson Susan, Akkari Yassmine, Pasquini Ricardo, Bagby Grover
Abstract excerpt
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.
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