title: Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
abstract: 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.
authors.affiliation: Oregon Health and Science University Cancer Institute, Portland, Oregon 97239, USA.
authors.forename: Jane
authors.initials: J
authors.lastname: Yates
authors.forename: Winifred
authors.initials: W
authors.lastname: Keeble
authors.forename: Gerard
authors.initials: G
authors.lastname: Pals
authors.forename: Najim
authors.initials: N
authors.lastname: Ameziane
authors.forename: Rosalina
authors.initials: R
authors.lastname: van Spaendonk
authors.forename: Susan
authors.initials: S
authors.lastname: Olson
authors.forename: Yassmine
authors.initials: Y
authors.lastname: Akkari
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pasquini
authors.forename: Grover
authors.initials: G
authors.lastname: Bagby
mesh_terms: D001854:Bone Marrow Cells / Q000166:cytology; D001938:Brazil; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D052218:Fanconi Anemia Complementation Group C Protein / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005816:Genetic Complementation Test; D006801:Humans; D009154:Mutation; D012326:RNA Splicing
chemical_list: D052218:Fanconi Anemia Complementation Group C Protein