EP 1257651 A2 20021120 - NUCLEIC ACIDS OF THE HUMAN ABC1 GENE AND APPLICATIONS THEREOF
Title (en)
NUCLEIC ACIDS OF THE HUMAN ABC1 GENE AND APPLICATIONS THEREOF
Title (de)
KERNSAÜRE DES HUMÄNEN ABC1 GENS UND DEREN VERWENDUNGEN
Title (fr)
ACIDES NUCLEIQUES DU GENE HUMAIN ABC1 ET LEURS UTILISATIONS
Publication
Application
Priority
- EP 00975997 A 20001026
- EP 0010886 W 20001026
- EP 99402668 A 19991026
- US 18626000 P 20000301
Abstract (en)
[origin: EP1096012A1] The present invention relates to nucleic acids corresponding to the various exons and introns of the ABC1 gene, which is a causal gene for pathologies linked to a cholesterol metabolism dysfunction inducing diseases such as atherosclerosis, more particularly disruption in the reverse transport of cholesterol, and more particularly familial HDL deficiencies (FHD), such as Tangier disease. The present invention also relates to ABC1 cDNAs encoding the novel full length ABC1 protein. The invention also relates to means for the detection of polymorphisms in general, and of mutations in particular, in the ABC1 gene or in the corresponding protein produced by the allelic form of the ABC1 gene.
IPC 1-7
C12N 15/52; C07K 14/705; C12Q 1/68; C07K 16/18; C12N 15/86; A61K 48/00
IPC 8 full level
G01N 33/50 (2006.01); A61K 31/7088 (2006.01); A61K 35/76 (2015.01); A61K 35/761 (2015.01); A61K 38/00 (2006.01); A61K 38/16 (2006.01); A61K 39/395 (2006.01); A61K 45/00 (2006.01); A61K 48/00 (2006.01); A61P 3/06 (2006.01); A61P 3/10 (2006.01); A61P 9/10 (2006.01); A61P 33/06 (2006.01); C07K 14/47 (2006.01); C07K 14/705 (2006.01); C07K 16/18 (2006.01); C12N 1/15 (2006.01); C12N 1/19 (2006.01); C12N 1/21 (2006.01); C12N 5/10 (2006.01); C12N 15/09 (2006.01); C12N 15/52 (2006.01); C12N 15/86 (2006.01); C12Q 1/02 (2006.01); C12Q 1/68 (2006.01); C12Q 1/6883 (2018.01); G01N 33/15 (2006.01); G01N 33/53 (2006.01); G01N 33/566 (2006.01)
CPC (source: EP)
A61P 3/06 (2018.01); A61P 3/10 (2018.01); A61P 9/10 (2018.01); A61P 33/06 (2018.01); C07K 14/705 (2013.01); C12Q 1/6883 (2013.01); A61K 48/00 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01)
Designated contracting state (EPC)
AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE
DOCDB simple family (publication)
EP 1096012 A1 20010502; AU 1391901 A 20010508; BR 0014998 A 20030617; CA 2388950 A1 20010503; EP 1257651 A2 20021120; HU P0400492 A2 20040528; HU P0400492 A3 20060130; JP 2003523177 A 20030805; WO 0130848 A2 20010503; WO 0130848 A3 20020912; ZA 200203269 B 20030724
DOCDB simple family (application)
EP 99402668 A 19991026; AU 1391901 A 20001026; BR 0014998 A 20001026; CA 2388950 A 20001026; EP 0010886 W 20001026; EP 00975997 A 20001026; HU P0400492 A 20001026; JP 2001533845 A 20001026; ZA 200203269 A 20020424