Haplotype and mutation analysis in Japanese patients with Wilson disease

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1423-1429

  Nanji, Manoj S ^a,c   Nguyen, Van T T ^a   Kawasoe, Jean H ^a,c   Inui, Koji ^d   Endo, Fumio ^e   Nakajima, Takashi ^f   Anezaki, Toshiharu ^g   Cox, Diane W ^a,b,c  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

^d OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^e KUMAMOTO UNIVERSITY   (Japan)

^f National Saigata Medical Center   (Japan)

^g Niigata University   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; GENE EXPRESSION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; JAPAN; MAJOR CLINICAL STUDY; MENKES SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; WILSON DISEASE; X CHROMOSOME LINKAGE;

EID: 0030971764     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515459     Document Type: Article

References (20)

1. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-337
2. Chelly J, Turner Z, Tonnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, et al (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3:14-19
3. Chuang L-M, Wu H-P, Jang M-H, Wang T-R, Sue W-C, Lin BJ, Cox DW, et al (1996) High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 33:521-523
4. Danks DM (1995) Disorders of copper transport. In: Scriver JR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 7th ed. Vol 1. McGraw-Hill, New York, pp 2211-2235
5. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, et al (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 57:1318-1324
6. Loudianos G, Dessi V, Angius A, Lovicu M, Loi A, Deiana M, Akar N, et al (1996) Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum Genet 98:640-642
7. Mercer JFB, Livingstone J, Hall B, Paynter JA, Begy C, Chandrasekharappa S, Lokhart P, et al. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 3:20-25
8. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
9. Pain VM (1996) Initiation of protein synthesis in eukaryotic cells. Eur J Biochem 236:747-771
10. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, et al (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5:338-343
11. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3:1647-1656
12. Scheinberg IH, Sternlieb I (1984) Wilson's disease. In: Smith LH (ed) Major problems in internal medicine. Vol 23. WB Saunders, Philadelphia, pp 10-12
13. Shimizu N, Kawase C, Nakazono H, Hemmi H, Shimatake H, Aoki T (1995) A novel RNA splicing mutation in Japanese patients with Wilson disease. Biochem Biophys Res Commun 217:16-20
14. Solioz M, Odermatt A, Krapf R (1994) Copper pumping ATPases: common concepts in bacteria and man. FEBS Lett 346:44-47
15. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, et al (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350
16. Thomas GR, Bull PC, Roberts EA, Walshe JM, Cox DW (1994) Haplotype studies in Wilson disease. Am J Hum Genet 54:71-78
17. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995a) The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9:210-217
18. Thomas GR, Roberts EA, Rosales TO, Moroz SP, Lambert MA, Wong LTK, Cox DW (1993) Allelic association and linkage studies in Wilson disease. Hum Mol Genet 2:1401-1405
19. Thomas GR, Roberts EA, Walshe JM, Cox DW (1995b) Haplotypes and mutations in Wilson disease. Am J Hum Genet 56:1315-1319
20. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3:7-1