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Volumn 11, Issue 2, 2004, Pages 121-124

A clinical and genetic study of 56 Saudi Wilson disease patients: Identification of Saudi-specific mutations

Author keywords

ATP7B gene; Mutation; Saudi patients; Wilson disease

Indexed keywords

ARTICLE; ATP7B GENE; COMPARATIVE STUDY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORRELATION ANALYSIS; DATA ANALYSIS; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC DISORDER; GENETIC VARIABILITY; GENOME; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SAUDI ARABIA; SCREENING; WILSON DISEASE;

EID: 1242269899     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1351-5101.2003.00729.x     Document Type: Article
Times cited : (40)

References (11)
  • 1
    • 0027507759 scopus 로고
    • A community survey of neurological disorders in Saudi Arabia. The Thuqba study
    • Al Rajeh A, Bademosi O, Ismail H et al. (1993). A community survey of neurological disorders in Saudi Arabia. The Thuqba study. Neuroepidemiology 12:164-178.
    • (1993) Neuroepidemiology , vol.12 , pp. 164-178
    • Al Rajeh, A.1    Bademosi, O.2    Ismail, H.3
  • 2
    • 0023821505 scopus 로고
    • Protean manifestations of Wilson's disease. Review of 7 Saudi patients
    • Bahemulka M, Karrar AZ, Al Mofleh I (1988). Protean manifestations of Wilson's disease. Review of 7 Saudi patients. Trop Geogr Med 40:131-138.
    • (1988) Trop Geogr Med , vol.40 , pp. 131-138
    • Bahemulka, M.1    Karrar, A.Z.2    Al Mofleh, I.3
  • 3
    • 0032852326 scopus 로고    scopus 로고
    • A study of Wilson disease in Britain
    • Curtis D, Durkie M, Balac P et al. (1999) A study of Wilson disease in Britain. Hum Mutat 14:304-311.
    • (1999) Hum Mutat , vol.14 , pp. 304-311
    • Curtis, D.1    Durkie, M.2    Balac, P.3
  • 4
    • 0031930832 scopus 로고    scopus 로고
    • Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups
    • Kalinsky H, Funes A, Zeldin A et al. (1998). Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat 11:145-151.
    • (1998) Hum Mutat , vol.11 , pp. 145-151
    • Kalinsky, H.1    Funes, A.2    Zeldin, A.3
  • 5
    • 10544236905 scopus 로고    scopus 로고
    • Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
    • Loudianos G, Dessi V, Angius A et al. (1996). Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum Genet 98:640-642.
    • (1996) Hum Genet , vol.98 , pp. 640-642
    • Loudianos, G.1    Dessi, V.2    Angius, A.3
  • 6
    • 0034306043 scopus 로고    scopus 로고
    • A novel deletion mutation in the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease
    • Majumdar R, Al Jumah M, Al Rajeh S et al. (2000). A novel deletion mutation in the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease. J Neurol Sci 179:140-143.
    • (2000) J Neurol Sci , vol.179 , pp. 140-143
    • Majumdar, R.1    Al Jumah, M.2    Al Rajeh, S.3
  • 7
    • 0027458772 scopus 로고
    • Magnetic resonance imaging of the brain in Wilson's disease
    • Nazer H, Brismar J, Al Kawi MZ (1993). Magnetic resonance imaging of the brain in Wilson's disease. Neuroradiology 35:130-133.
    • (1993) Neuroradiology , vol.35 , pp. 130-133
    • Nazer, H.1    Brismar, J.2    Al Kawi, M.Z.3
  • 8
    • 16944366995 scopus 로고    scopus 로고
    • Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses
    • Shah A, Chernov I, Jhang HT et al. (1997). Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61:317-328.
    • (1997) Am J Hum Genet , vol.61 , pp. 317-328
    • Shah, A.1    Chernov, I.2    Jhang, H.T.3
  • 9
    • 0001931287 scopus 로고
    • Wilson's disease
    • Llyod H, Smith J, eds. WB Saunders Co., Philadelphia
    • Sheinberg IH, Sternlieb I (1984). Wilson's disease. In: Llyod H, Smith J, eds. Major Problems in Internal Medicine. WB Saunders Co., Philadelphia.
    • (1984) Major Problems in Internal Medicine
    • Sheinberg, I.H.1
  • 11
    • 0034974763 scopus 로고    scopus 로고
    • Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease
    • Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L (2001). Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol 58:971-976.
    • (2001) Arch Neurol , vol.58 , pp. 971-976
    • Wu, Z.Y.1    Wang, N.2    Lin, M.T.3    Fang, L.4    Murong, S.X.5    Yu, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.