(19)
(11) EP 0 896 629 B8

(12) CORRECTED EUROPEAN PATENT SPECIFICATION
Note: Bibliography reflects the latest situation

(15) Correction information:
Corrected version no 1 (W1 B1)

(48) Corrigendum issued on:
02.01.2003 Bulletin 2003/01

(45) Mention of the grant of the patent:
02.10.2002 Bulletin 2002/40

(21) Application number: 97915143.8

(22) Date of filing: 19.03.1997
(51) International Patent Classification (IPC)7: C12Q 1/68
(86) International application number:
PCT/US9704/269
(87) International publication number:
WO 9703/5034 (25.09.1997 Gazette 1997/41)

(54)

METHODS AND COMPOSITIONS FOR DETECTING DIHYDROPYRIMIDINE DEHYDROGENASE SPLICING MUTATIONS

VERFAHREN UND ZUSAMMENSETZUNGEN ZUM NACHWEIS VON SPLEISS-MUTATIONEN IN DIHYDROPYREMUDINE DEHYDROGENASE

PROCEDE ET COMPOSITIONS DE DETECTION DES MUTATIONS A EPISSAGE DE LA DIHYDROPYRIMIDINE DESHYDROGENASE

(84) Designated Contracting States:
AT BE CH DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE

(30) Priority: 20.03.1996 US 13835 P

(43) Date of publication of application:
17.02.1999 Bulletin 1999/07

(73) Proprietor: THE GOVERNMENT OF THE UNITED STATES OF AMERICA, as represented by the Secretary of the Department of Health and Human Services
Bethesda, Maryland 20892 (US)

(72) Inventors:
  • GONZALEZ, Frank, J.
    Bethesda, MD 20814 (US)
  • FERNANDEZ-SALGUERO, Pedro
    Bethesda, MD 20814 (US)

(74) Representative: Heusch, Christian 
c/o OK pat AG, Chamerstrasse 50
6300 Zug
6300 Zug (CH)


(56) References cited: : 
   
  • DNA AND CELL BIOLOGY, vol. 14, no. 1, January 1995, page 1-6 XP000675568 MEINSMA ET AL: "Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea" cited in the application
  • TRENDS PHARMACOL. SCI., vol. 16, no. 10, October 1995, pages 325-7, XP000674605 GONZALEZ, F ET AL: "Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency"
  • SINGAPORE JOURNAL OF OBSTETRICS AND GYNACOLOGY, vol. 26, no. 3, November 1995, pages 176-86, XP000600337 ROY, A ET AL: "molecular scanning of human diseases"
  • NUCLEIC ACIDS RESEARCH, vol. 15, no. 14, 1987, pages 5613-28, XP002032865 MARVIT, J ET AL: "GT to AT transition at a splice donor site causes skipping of the preceeding exon in phenylketonuria "
  • JOURNAL BIOLOGICAL CHEMISTRY, vol. 265, no. 20, July 1990, pages 12067-74, XP002032866 KUIVANIEMI, H. ET AL: "Identical G to a mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos Syndrome IV"
  • JOURNAL OF CLINICAL INVESTIGATION, vol. 98, no. 3, August 1996, pages 610-15, XP000675565 WEI, X. ET AL: "Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity"
   
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