Global Patent Index - EP 1047786 A2

EP 1047786 A2 2000-11-02 - 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

EP 1047786 A2 (EN)

Application

EP 99900717 A

Priority

  • NL 9900033 W
  • US 7175298 P

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 (main, further and additional classification)

C12N 15/55; A01K 67/027; A61K 48/00; C07K 16/00; C12N 5/10; C12N 9/14; C12N 15/12; C12Q 1/68

IPC 8 full level (invention and additional information)

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 (invention and additional information)

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 9936533A3

Designated contracting state (EPC)

AT BE CH DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE

EPO simple patent family

WO 9936533 A2 19990722; WO 9936533 A3 19990923; AU 1986399 A 19990802; EP 1047786 A2 20001102

INPADOC legal status


2003-03-05 [18D] DEEMED TO BE WITHDRAWN

- Effective date: 20020801

2000-11-02 [17P] REQUEST FOR EXAMINATION FILED

- Effective date: 20000816

2000-11-02 [AK] DESIGNATED CONTRACTING STATES:

- Kind Code of Ref Document: A2

- Designated State(s): AT BE CH DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE