-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
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