Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

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 modi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679057/
https://www.ncbi.nlm.nih.gov/pubmed/19331686
http://dx.doi.org/10.1186/1471-2156-10-16

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