Ontology highlight
ABSTRACT:
SUBMITTER: Quarello P
PROVIDER: S-EPMC3590087 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Quarello Paola P Garelli Emanuela E Brusco Alfredo A Carando Adriana A Mancini Cecilia C Pappi Patrizia P Vinti Luciana L Svahn Johanna J Dianzani Irma I Ramenghi Ugo U
Haematologica 20120611 12
Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine ribosomal protein encoding genes. Because most mutations are loss of function and detected by direct sequencing of coding exons, we reasoned that part of the approximately 50% mutation negative patients may have carried a copy number variant of ribosomal protein genes. As a proof of concept, we designed a multiplex ligation-dependent probe amplification assay targeted to screen the six genes that are most frequentl ...[more]