EP 1283897 A4 20040804 - GENE RESPONSIBLE FOR STARGARDT-LIKE DOMINANT MACULAR DYSTROPHY
Title (en)
GENE RESPONSIBLE FOR STARGARDT-LIKE DOMINANT MACULAR DYSTROPHY
Title (de)
FÜR STARGARDT-ÄHNLICHE, DOMINANTE, MAKULA-DYSTROPHY VERANTWORTLICHES GEN
Title (fr)
GENE RESPONSABLE DE LA DYSTROPHIE MACULAIRE DOMINANTE DE STARGARDT
Publication
Application
Priority
- US 0115464 W 20010511
- US 20499000 P 20000516
Abstract (en)
[origin: WO0187921A2] The gene responsible for Stargardt-like macular dystrophy has been identified, along with its normal allelic form. The mutant gene encodes a mutant protein containing a frameshift mutation, resulting in abnormal fatty acid synthesis and transport in the retina. Also disclosed are assays for Stargardt-like macular dystrophy and therapies.
IPC 1-7
C12P 21/06; C12N 1/20; C07K 14/47; A61P 27/00; G01N 33/53; C12Q 1/68
IPC 8 full level
C07K 14/47 (2006.01); C12Q 1/68 (2006.01); C12Q 1/6883 (2018.01)
CPC (source: EP)
A61P 27/00 (2017.12); C07K 14/47 (2013.01); C12Q 1/6883 (2013.01); C12Q 2600/156 (2013.01)
Citation (search report)
- [AD] EDWARDS A O ET AL: "Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.", AMERICAN JOURNAL OF OPHTHALMOLOGY. UNITED STATES APR 1999, vol. 127, no. 4, April 1999 (1999-04-01), pages 426 - 435, XP002283260, ISSN: 0002-9394
- [A] DATABASE EMBL [online] 7 March 2000 (2000-03-07), SIMS S, XP002283261, retrieved from EMBL Database accession no. AL159162
- See references of WO 0187921A2
Designated contracting state (EPC)
AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE TR
DOCDB simple family (publication)
WO 0187921 A2 20011122; WO 0187921 A3 20020314; CA 2409705 A1 20011122; EP 1283897 A2 20030219; EP 1283897 A4 20040804
DOCDB simple family (application)
US 0115464 W 20010511; CA 2409705 A 20010511; EP 01935445 A 20010511