Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
复制标题
巴西范可尼贫血患者 FANCC 的新型失活突变。
DOI：
10.1002/humu.9402
复制
发表时间：
2006
期刊：
影响因子：
--
通讯作者：
Bagby,Grover
中科院分区：
文献类型：
--
作者：
Yates,Jane;Keeble,Winifred;Pals,Gerard;Ameziane,Najim;vanSpaendonk,Rosalina;Olson,Susan;Akkari,Yassmine;Pasquini,Ricardo;Bagby,Grover
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. Published 2006 Wiley‐Liss, Inc.
