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.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Bardet-Biedl Syndrome / ethnology*
  • Bardet-Biedl Syndrome / genetics*
  • Conserved Sequence
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Databases, Genetic
  • Family
  • Genetic Testing
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Phosphate-Binding Proteins
  • Proteins / genetics*
  • Proteins / physiology*
  • Racial Groups / genetics

Substances

  • BBS5 protein, human
  • Cytoskeletal Proteins
  • Phosphate-Binding Proteins
  • Proteins

Associated data

  • OMIM/603650
  • RefSeq/NM_152384