Title:
BSND NUCLEIC ACIDS AND PROTEINS
Document Type and Number:
WIPO Patent Application WO2003100075
Kind Code:
A3
Abstract:
The present invention relates to the BSND (barttin) protein and nucleic acids encoding the BSND protein. The present invention provides assays for the detection of BSND and barttin polymorphisms and mutations associated with disease states.
Inventors:
HILDEBRANDT FRIEDHELM (US)
JENTSCH THOMAS J (DE)
JENTSCH THOMAS J (DE)
Application Number:
PCT/US2002/033726
Publication Date:
May 12, 2005
Filing Date:
October 18, 2002
Export Citation:
Assignee:
UNIV MICHIGAN (US)
HILDEBRANDT FRIEDHELM (US)
JENTSCH THOMAS J (DE)
HILDEBRANDT FRIEDHELM (US)
JENTSCH THOMAS J (DE)
International Classes:
C07K14/47; (IPC1-7): C12Q1/68; G01N33/53; C07H21/02; C07K1/00
Foreign References:
| US5763184A | 1998-06-09 |
Other References:
BIRKENHOGER R. ET AL: "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure", NATURE GENETICS, vol. 29, November 2001 (2001-11-01), pages 310 - 314, XP002985248
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