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Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia

✍ Scribed by Jane Yates; Winifred Keeble; Gerard Pals; Najim Ameziane; Rosalina van Spaendonk; Susan Olson; Yassmine Akkari; Ricardo Pasquini; Grover Bagby

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 217 KB
Volume: 27
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9402

No coin nor oath required. For personal study only.

✦ Synopsis

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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