Bardet-Biedl Syndrome Bioinformatics resource.


Supplementary Information for:

-BBS12 please click here.
Stoetzel C, Muller J et al. Identification of a Novel BBS gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome. American Journal of Human Genetics. Jan 2007.

-28 novel mutations please click here.
Muller J, Stoetzel C et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome (BBS) genes: the burden of private mutations in an extensively heterogeneous disease. Human Genetics. Feb 2010

Please feel free to contact us for any problem or suggestions (jeanmuller@unistra.fr).
Muller et al (2010) Human Genetics doi: 10.1007/s00439-010-0804-9
Stoetzel et al (2007) Am. J. Hum. Genet. doi: 10.1086/510256
Laurier et al (2006) Eur. J. Hum. Genet. doi: 10.1038/sj.ejhg.5201688
Stoetzel et al (2006) Nature Genetics doi: 10.1038/ng1771
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