Article
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
European journal of human genetics : EJHG - 1 Nov 2006
Laurier Virginie, Stoetzel Corinne, Muller Jean, Thibault Christelle, Corbani Sandra, Jalkh Nadine, Salem Nabiha, Chouery Eliane, Poch Olivier, Licaire Serge, Danse Jean-Marc, Amati-Bonneau Patricia, Bonneau Dominique, Mégarbané André, Mandel Jean-Louis, Dollfus Hélène
Abstract excerpt
The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account cumulatively for about 50% of patients. The BBS genes appear implicated in cilia and basal body assembly or function. In order to find new BBS genes, we performed SNP homozygosity mapping...
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