Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Hjortshøj
Tina Duelund
TD
Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark. tid@kennedy.dk
Grønskov
Karen
K
Philp
Alisdair R
AR
Nishimura
Darryl Y
DY
Adeyemo
Adebowale
A
Rotimi
Charles N
CN
Sheffield
Val C
VC
Rosenberg
Thomas
T
Brøndum-Nielsen
Karen
K
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
C487434:BBS5 protein, human; D003598:Cytoskeletal Proteins; D028044:Phosphate-Binding Proteins; D011506:Proteins