Article
Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.
BMC genetics - 30 Mar 2009
Brooks Peter, Marcaillou Charles, Vanpeene Maud, Saraiva Jean-Paul, Stockholm Daniel, Francke Stephan, Favis Reyna, Cohen Nadine, Rousseau Francis, Tores Frédéric, Lindenbaum Pierre, Hager Jörg, Philippi Anne
Abstract excerpt
BACKGROUND: The monogenic disease osteogenesis imperfecta (OI) is due to single mutations in either of the collagen genes ColA1 or ColA2, but within the same family a given mutation is accompanied by a wide range of disease severity. Although this phenotypic variability implies the existence of modifier gene variants, genome wide scanning of DNA from OI patients has not been reported. Promising genome wide...
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