Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction

Annals of Internal Medicine

Volumn 127, Issue 1, 1997, Pages 21-26

  Maier Dobersberger, Theresia ^a   Ferenci, Peter ^a   Polli, Claudia ^a   Balać, Pauline ^b   Dienes, Hans Peter ^c   Kaserer, Klaus ^a   Datz, Christian ^d   Vogel, Wolfgang ^e   Gangl, Alfred ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c UNIVERSITY OF COLOGNE   (Germany)

^d LKH Salzburg   (Austria)

^e UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WILSON DISEASE;

EID: 0030871471     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-127-1-199707010-00004     Document Type: Article

References (24)

1. Sternlieb I. Perspectives on Wilson's disease. Hepatology. 1990;12:1234-9.
2. Thomas GR, Roberts EA, Walshe JM, Cox DW. Haplotypes and mutations in Wilson disease. Am J Hum Genet. 1995;56:1315-9.
3. Danks DM, Metz G, Sewell R, Prewett EJ. Wilson's disease in adults with cirrhosis but no neurological abnormalities. BMJ. 1990;301:331-2.
4. Ross ME, Jacobson IM, Dienstag JL, Martin JB. Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. Ann Neurol. 1985;17:411-3.
5. Strickland GT, Beckner WM, Leu ML. Absorption of copper in homozygotes and heterozygotes for Wilson's disease and controls: isotope tracer studies with 67 Cu and 64 Cu. Clin Sci. 1972;43:617-25.
6. Seventh International Symposium Wilson's Disease. Baden/Vienna, Austria, 25-27 August 1995 Abstracts. Z Gastroenterol. 1995;33:472-90.
7. Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LH, ed. Major Problems in Internal Medicine. v 23. Philadelphia: WB Saunders; 1984.
8. Farrer LA, Bowcock AM, Hebert JM, Bonne-Tamir B, Sternlieb I, Giagheddu M, et al. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology. 1991;41:992-9.
9. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their conseguences. Nat Genet. 1995;9:210-7.
10. Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R. H714Q mutation in Wilson disease is associated with late, neurological presentation. J Med Genet. 1995;32:480-2.
11. Maier-Dobersberger T, Mannhalter C, Rack S, Granditsch G, Kaserer K, Korninger L, et al. Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology. 1995;109:2015-8.
12. Kingston HM, Jassie LB. Microwave energy for acid decomposition at elevated temperatures and pressures using biological and botanical samples. Anal Chem. 1986;58:2534-41.
13. Scheuer PJ. Classification of chronic viral hepatitis: a need for reassessment. J Hepatol. 1991;13:372-4.
14. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet. 1993;5:338-43.
15. Goodman SN, Berlin JA. The use of predicted confidence intervals when planning experiments and the misuse of power when interpreting results. Ann Intern Med. 1994;121:200-6.
16. Propst A, Propst T, Feichtinger H, Judmaier G, Willeit J, Vogel W. Copper-induced acute rhabdomyolysis in Wilson's disease. Gastroenterology. 1995;108:885-7.
17. Czlonkowska A, Houwen RH, Juyn J, Gajda J, Rodo M. H714Q mutation in Wilson's disease in Poland [Abstract]. Z Gastroenterologie. 1995;33: 475(13).
18. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet. 1995;57:1318-24.
19. Fassmann H. Migration in Österreich 1850 bis 1900: Migrationsströme innerhalb der Monarchie und Struktur der Zuwanderung nach Wien. Demographische Information. 1986:22-8.
20. Schilsky ML, Scheinberg IH, Sternlieb I. Liver transplantation for Wilson's disease: indications and outcome. Hepatology. 1994;19:583-7.
21. McCullough AJ, Fleming CR, Thistle JL, Baldus WP, Ludwig J, McCall JT, et al. Diagnosis of Wilson's disease presenting as fulminant hepatic failure. Gastroenterology. 1983;84:161-7.
22. Berman DH, Leventhal RI, Gavaler JS, Cadoff EM, Van Thiel DH. Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure. Gastroenterology. 1991;100:1129-34.
23. Kasai N, Miyoshi I, Osanai T, Yamashita T, Kamimura E, Yoshida MC. Effects of sex hormones on fulminant hepatitis in LEC rats: a model of Wilson's disease. Lab Anim Sci. 1992;42:363-8.
24. Hubbard R, Lewontin RC. Pitfalls of genetic testing. N Engl J Med. 1996; 334:1192-4.