title: Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
authors.affiliation: Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark. tid@kennedy.dk
authors.forename: Tina Duelund
authors.initials: TD
authors.lastname: Hjortshøj
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Alisdair R
authors.initials: AR
authors.lastname: Philp
authors.forename: Darryl Y
authors.initials: DY
authors.lastname: Nishimura
authors.forename: Adebowale
authors.initials: A
authors.lastname: Adeyemo
authors.forename: Charles N
authors.initials: CN
authors.lastname: Rotimi
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: Thomas
authors.initials: T
authors.lastname: Rosenberg
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D000595:Amino Acid Sequence; D020788:Bardet-Biedl Syndrome / Q000208:ethnology* / Q000235:genetics*; D017124:Conserved Sequence; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D005190:Family; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D028044:Phosphate-Binding Proteins; D011506:Proteins / Q000235:genetics* / Q000502:physiology*; D044469:Racial Groups / Q000235:genetics
chemical_list: C487434:BBS5 protein, human; D003598:Cytoskeletal Proteins; D028044:Phosphate-Binding Proteins; D011506:Proteins