Journal article
The molecular genetics of Bardet–Biedl syndrome
Current Opinion in Genetics & Development, Vol.11(3), pp.317-321
2001
DOI: 10.1016/S0959-437X(00)00196-9
PMID: 11377969
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.
Details
- Title: Subtitle
- The molecular genetics of Bardet–Biedl syndrome
- Creators
- Val C Sheffield - Departments of Pediatrics and University of Iowa, 440 EMRB, Iowa City, Iowa 52242, USADarryl Nishimura - Departments of Pediatrics and University of Iowa, 440 EMRB, Iowa City, Iowa 52242, USAEdwin M Stone - Departments of Ophthalmology and the University of Iowa, 440 EMRB, Iowa City, Iowa 52242, USA
- Resource Type
- Journal article
- Publication Details
- Current Opinion in Genetics & Development, Vol.11(3), pp.317-321
- DOI
- 10.1016/S0959-437X(00)00196-9
- PMID
- 11377969
- NLM abbreviation
- Curr Opin Genet Dev
- ISSN
- 0959-437X
- eISSN
- 1879-0380
- Publisher
- Elsevier Ltd
- Language
- English
- Date published
- 2001
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980031302771
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