Article
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.
Journal of medical genetics - 1 Nov 2000
Bugge M, Bruun-Petersen G, Brøndum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen P K, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen K R, Rasmussen K, Tommerup N
Abstract excerpt
Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identification and mapping of DBCRs. To get an estimate of the potential of this approach, we surveyed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.