The present invention relates to the designation of ADP-ribosylation factor-like 6 as the BBS3 gene, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.
Patent
Bardet-Biedl susceptibility gene and uses thereof
United States Patent and Trademark Office
02/19/2008
Abstract
Details
- Title: Subtitle
- Bardet-Biedl susceptibility gene and uses thereof
- Creators
- Val C Sheffield (Inventor)Edwin Stone (Inventor)Thomas Casavant (Inventor)Terry Braun (Inventor)Darryl Nishimura (Inventor)
- Contributors
- University of Iowa Research Foundation (Iowa City, IA, US) (Assignee)
- Resource Type
- Patent
- Publisher
- United States Patent and Trademark Office; United States
- Patent
- US Patent 7,332,591; Published; 11/019,081; 12/21/2004; 536/23.1; 536/23.5, 536/24.1
- Number of pages
- 50 pages
- Language
- English
- Date published
- 02/19/2008
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; UI Research Foundation; Ophthalmology and Visual Sciences
- Record Identifier
- 9983762075302771
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