TY - JOUR
T1 - Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
AU - Yates, Jane
AU - Keeble, Winifred
AU - Pals, Gerard
AU - Ameziane, Najim
AU - van Spaendonk, Rosalina
AU - Olson, Susan
AU - Akkari, Yassmine
AU - Pasquini, Ricardo
AU - Bagby, Grover
PY - 2006/2
Y1 - 2006/2
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=33745952197&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/humu.9402
DO - https://doi.org/10.1002/humu.9402
M3 - Article
C2 - 16429406
SN - 1059-7794
VL - 27
SP - 214
JO - Human mutation
JF - Human mutation
IS - 2
ER -