Ontology highlight
ABSTRACT:
SUBMITTER: Flynn EK
PROVIDER: S-EPMC4407816 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Flynn Elizabeth K EK Kamat Aparna A Lach Francis P FP Donovan Frank X FX Kimble Danielle C DC Narisu Narisu N Sanborn Erica E Boulad Farid F Davies Stella M SM Gillio Alfred P AP Harris Richard E RE MacMillan Margaret L ML Wagner John E JE Smogorzewska Agata A Auerbach Arleen D AD Ostrander Elaine A EA Chandrasekharappa Settara C SC
Human mutation 20141101 11
Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution comparative genome hybridization arrays, single-nucleotide polymorphism arrays, and DNA sequencing. We found pathogenic deletions in 88 FANCA, seven FANCC, two FANCD2, and one FANCB famil ...[more]