Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

  • Am J Med Genet A. 2008 Feb 15;146A(4):517-20. doi: 10.1002/ajmg.a.32136.
Tina Duelund Hjortshøj  1 ,  Karen Grønskov ,  Alisdair R Philp ,  Darryl Y Nishimura ,  Adebowale Adeyemo ,  Charles N Rotimi ,  Val C Sheffield ,  Thomas Rosenberg ,  Karen Brøndum-Nielsen
Affiliations
PMID: 18203199 DOI: 10.1002/ajmg.a.32136