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Your search keyword '"Jacquelin, Cecile"' showing total 1 results
Start Over Author "Jacquelin, Cecile" Topic bardet-biedl syndrome -- research
1 results on '"Jacquelin, Cecile"'

1. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Author

Stoetzel, Corrine, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cecile, Plewniak, Frederic, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, De Ravel, Thomy J.L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, and Dollfus, Helene

Subjects
Bardet-Biedl syndrome -- Genetic aspects, Bardet-Biedl syndrome -- Research, Molecular chaperones -- Structure, Molecular chaperones -- Research, Single nucleotide polymorphisms -- Research, Biological sciences
Abstract

A novel Bardet-Biedl syndrome (BBS) gene BBS12 was identified by a combination of single-nucleotide polymorphism array homozygosity mapping with in silico analysis. The identification of BBS12, mutated in 5% of families with BBS, allowed the individualization of a novel branch of vertebrate-specific chaperonin-related proteins that account for one-third of the mutational load in patients with BBS.

Published
2007

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