Title:
RETINAL CALCIUM CHANNEL (ALPHA)1F-SUBUNIT GENE
Document Type and Number:
WIPO Patent Application WO1999063078
Kind Code:
A9
Abstract:
This present invention relates to calcium channel compositions. In particular, this invention relates to a mammalian gene, herein referred to as CACNA1F, encoding an (alpha)1F-subunit of a retinal calcium channel. Mutations of CACNA1F may cause a type of X-linked congenital stationary night blindness known as incomplete CSNB, and may also cause Aaland Island Eye Disease, which may be clinically indistinguishable from incomplete CSNB.
Inventors:
BECH-HANSEN TORBEN (CA)
NAYLOR MARGARET JANE (CA)
NAYLOR MARGARET JANE (CA)
Application Number:
PCT/CA1999/000514
Publication Date:
March 09, 2000
Filing Date:
June 02, 1999
Export Citation:
Assignee:
UNIV TECHNOLOGIES INT (CA)
BECH HANSEN TORBEN (CA)
NAYLOR MARGARET JANE (CA)
BECH HANSEN TORBEN (CA)
NAYLOR MARGARET JANE (CA)
International Classes:
C07K14/705; C12N15/12; (IPC1-7): C12N15/12; C07K14/705; C12N15/62; C12Q1/68
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