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

Hum. Mutat.2006 Feb;27(2):214. doi:10.1002/humu.9402

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摘要

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

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