EP 1047786 A2 20001102 - NUCLEIC ACID CORRESPONDING TO MUTATION ASSOCIATED WITH CHOLESTASIS SYNDROMES
Title (en)
NUCLEIC ACID CORRESPONDING TO MUTATION ASSOCIATED WITH CHOLESTASIS SYNDROMES
Title (de)
DER MIT CHOLESTASE SYNDROMEN ASSOZIIERTEN MUTATION ENTSPRECHENDE NUCLEISCHE SÄURE
Title (fr)
ACIDE NUCLEIQUE CORRESPONDANT A UNE MUTATION ASSOCIEE A DES CHOLESTASES
Publication
Application
Priority
- NL 9900033 W 19990118
- US 7175298 P 19980116
Abstract (en)
[origin: WO9936533A2] The invention relates to the field of gastroenteral disease in humans, more specifically to the field of liver disease, bile formation and bile acid secretion. In particular, it relates to gastroenteral disorders characterised by cholestasis, as for example seen with benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis, or other disorders related to impaired bile flow or bile acid secretion, particularly in mammals. The invention provides an isolated and/or recombinant nucleic acid, or a functional fragment or homologue thereof, derived from a gene, which gene comprises a mutation in patients with benign recurrent intrahepatic cholestasis (BRIC) or progressive familial intrahepatic cholestasis (PFIC), said nucleic acid in humans having a sequence substantially identical to a nucleic acid sequence as shown in Fig. 5.
IPC 1-7
C12N 15/55; C12N 15/12; C12N 5/10; A01K 67/027; C07K 16/00; A61K 48/00; C12Q 1/68; C12N 9/14
IPC 8 full level
C07K 14/47 (2006.01); C12N 9/14 (2006.01); C12N 15/12 (2006.01); A61K 38/00 (2006.01); A61K 48/00 (2006.01)
CPC (source: EP)
C07K 14/47 (2013.01); C12N 9/14 (2013.01); A01K 2217/05 (2013.01); A61K 38/00 (2013.01); A61K 48/00 (2013.01)
Citation (search report)
See references of WO 9936533A2
Designated contracting state (EPC)
AT BE CH DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE
DOCDB simple family (publication)
WO 9936533 A2 19990722; WO 9936533 A3 19990923; AU 1986399 A 19990802; EP 1047786 A2 20001102
DOCDB simple family (application)
NL 9900033 W 19990118; AU 1986399 A 19990118; EP 99900717 A 19990118