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Volumn 242, Issue 3, 1997, Pages 213-217

Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

Author keywords

Acute intermittent porphyria; Gene mutations

Indexed keywords

AMINOLEVULINIC ACID; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE;

EID: 0030799468     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2796.1997.00189.x     Document Type: Article
Times cited : (111)

References (14)
  • 1
    • 0022576716 scopus 로고
    • Metabolic abnormalities in the porphyrias
    • Elder GH. Metabolic abnormalities in the porphyrias. Sem Dermatol 1986; 5: 88-98.
    • (1986) Sem Dermatol , vol.5 , pp. 88-98
    • Elder, G.H.1
  • 3
    • 9844255321 scopus 로고
    • Porphyria in Western Australia
    • Saint EG, Curnow DH. Porphyria in Western Australia. Lancet 1962; 1: 133-6.
    • (1962) Lancet , vol.1 , pp. 133-136
    • Saint, E.G.1    Curnow, D.H.2
  • 4
    • 0001346327 scopus 로고
    • The porphyrias as inborn errors of metabolism
    • Waldenström J. The porphyrias as inborn errors of metabolism. Am J Med 1957; 22: 758-73.
    • (1957) Am J Med , vol.22 , pp. 758-773
    • Waldenström, J.1
  • 5
    • 0015509185 scopus 로고
    • Intermittent acute porphyria. Demonstration of a genetic defect in porphobilinogen metabolism
    • Meyer UA, Strand L, Doss M, Rees AC, Marver HS. Intermittent acute porphyria. Demonstration of a genetic defect in porphobilinogen metabolism. N Engl J Med 1972; 286: 1277-82.
    • (1972) N Engl J Med , vol.286 , pp. 1277-1282
    • Meyer, U.A.1    Strand, L.2    Doss, M.3    Rees, A.C.4    Marver, H.S.5
  • 6
    • 0026682570 scopus 로고
    • Frequency of low erythrocyte porphobilinogen deaminase activity in Finland
    • Mustajoki P, Kauppinen R, Lannfelt L, Lilius L, Koistinen J, Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. J Int Med 1992; 231: 389-95.
    • (1992) J Int Med , vol.231 , pp. 389-395
    • Mustajoki, P.1    Kauppinen, R.2    Lannfelt, L.3    Lilius, L.4    Koistinen, J.5
  • 7
    • 0008360911 scopus 로고
    • A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease
    • Sassa S, Granick S, Bickers DS, Bradlow HL, Kappas A. A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease. Proc Nat Acad Sci (USA) 1974; 71: 732-6.
    • (1974) Proc Nat Acad Sci (USA) , vol.71 , pp. 732-736
    • Sassa, S.1    Granick, S.2    Bickers, D.S.3    Bradlow, H.L.4    Kappas, A.5
  • 8
    • 0023713201 scopus 로고
    • Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression
    • Chretien S, Dubart A, Beaupain D, Raich N, Grandchamp B, Rosa J et al. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc Nat Acad Sci (USA) 1988; 85: 6-10.
    • (1988) Proc Nat Acad Sci (USA) , vol.85 , pp. 6-10
    • Chretien, S.1    Dubart, A.2    Beaupain, D.3    Raich, N.4    Grandchamp, B.5    Rosa, J.6
  • 9
    • 0029054485 scopus 로고
    • Porphobilinogen deaminase gene structure and molecular defects
    • Deybach JC, Puy H. Porphobilinogen deaminase gene structure and molecular defects. J Bioenerg Biomembranes 1995; 27: 197-205.
    • (1995) J Bioenerg Biomembranes , vol.27 , pp. 197-205
    • Deybach, J.C.1    Puy, H.2
  • 10
    • 0023476285 scopus 로고
    • Detection and localisation of single base changes by denaturing gradient gel electrophoresis
    • Myers RM, Maniatis T, Lerman LS. Detection and localisation of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155: 501-27.
    • (1987) Methods Enzymol , vol.155 , pp. 501-527
    • Myers, R.M.1    Maniatis, T.2    Lerman, L.S.3
  • 11
    • 0021683792 scopus 로고
    • Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: A bayesian approach
    • Bonaïti-Pellie C, Phung L, Nordmann Y. Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a bayesian approach. Am J Med Genet 1984; 19: 755-62.
    • (1984) Am J Med Genet , vol.19 , pp. 755-762
    • Bonaïti-Pellie, C.1    Phung, L.2    Nordmann, Y.3
  • 12
    • 0027381060 scopus 로고
    • Detection of high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    • Mgone C, Lanyon W, Moore M, Louie G, Connor J. Detection of high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Hum Genet 1993; 92: 619-22.
    • (1993) Hum Genet , vol.92 , pp. 619-622
    • Mgone, C.1    Lanyon, W.2    Moore, M.3    Louie, G.4    Connor, J.5
  • 13
    • 0028032023 scopus 로고
    • Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis
    • Gu XF, de Rooij F, Voortman G, Te Velde K, Deybach JC, Nordmann Y, Grandchamp B. Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis. Hum Genet 1994; 93: 47-52.
    • (1994) Hum Genet , vol.93 , pp. 47-52
    • Gu, X.F.1    De Rooij, F.2    Voortman, G.3    Te Velde, K.4    Deybach, J.C.5    Nordmann, Y.6    Grandchamp, B.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.