Ontology highlight
ABSTRACT:
SUBMITTER: Nicchia E
PROVIDER: S-EPMC4694132 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Nicchia Elena E Greco Chiara C De Rocco Daniela D Pecile Vanna V D'Eustacchio Angela A Cappelli Enrico E Corti Paola P Marra Nicoletta N Ramenghi Ugo U Pillon Marta M Farruggia Piero P Dufour Carlo C Pallavicini Alberto A Torelli Lucio L Savoia Anna A
Molecular genetics & genomic medicine 20150702 6
Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time-consuming. Since next-generation sequencing technologies could greatly improve the genetic testing in FA, we sequenced DNA samples with known and unknown mutant alleles using the Ion PGM (™) system (IPGM). The molecular target of 74.2 kb in size covered 96% of the FA-coding exons and their flanking regions. ...[more]