title: The molecular genetics of Bardet-Biedl syndrome.
abstract: Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six known loci. One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be substrates of chaperone function.
authors.affiliation: Departments of Pediatrics and University of Iowa, 440 EMRB, Iowa City, Iowa 52242, USA. Val-sheffield@uiowa.edu
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: D
authors.initials: D
authors.lastname: Nishimura
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D018833:Chaperonins / Q000502:physiology; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D056385:Group II Chaperonins; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008869:Microtubule-Associated Proteins; D018832:Molecular Chaperones / Q000235:genetics; D009687:Nuclear Proteins / Q000502:physiology; D044767:Ubiquitin-Protein Ligases; D056427:t-Complex Genome Region
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C414726:MKKS protein, human; D008869:Microtubule-Associated Proteins; D018832:Molecular Chaperones; D009687:Nuclear Proteins; C116196:PPP1R11 protein, human; D044767:Ubiquitin-Protein Ligases; D018833:Chaperonins; D056385:Group II Chaperonins