Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene Among Swiss Patients

[1] Kauppinen R(1992)Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors, and associated diseases Medicine 71 1-13

[2] Mustajoki P(1998)Acute intermittent porphyria Semin. Liver Dis. 18 17-24

[3] Grandchamp B(1984)Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat Proc. Natl. Acad. Sci. U.S.A. 81 5036-5040

[4] Grandchamp B(1986)Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase Nucleic Acids Res. 14 5955-5968

[5] Romeo PH(1997)Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria Am. J. Hum. Genet. 60 1373-1383

[6] Dubart A(1993)High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria Hum. Genet. 91 128-130

[7] Raich N(1991)Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria Proc. Natl. Acad. Sci. U.S.A. 88 10912-10915

[8] Romeo PH(1997)Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian “foreign Protestant” population with: a founder effect Clin. Biochem. 30 607-612

[9] Dubart A(2000)Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria Hum. Hered. 50 247-250

[10] Beaupain D(1972)Decreased red cell uroporphyrinogen I synthase activity in acute intermittent porphyria J. Clin. Invest. 51 2530-2535

[1] Kauppinen R(1992)Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors, and associated diseases Medicine 71 1-13

[2] Mustajoki P(1998)Acute intermittent porphyria Semin. Liver Dis. 18 17-24

[3] Grandchamp B(1984)Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat Proc. Natl. Acad. Sci. U.S.A. 81 5036-5040

[4] Grandchamp B(1986)Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase Nucleic Acids Res. 14 5955-5968

[5] Romeo PH(1997)Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria Am. J. Hum. Genet. 60 1373-1383

[6] Dubart A(1993)High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria Hum. Genet. 91 128-130

[7] Raich N(1991)Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria Proc. Natl. Acad. Sci. U.S.A. 88 10912-10915

[8] Romeo PH(1997)Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian “foreign Protestant” population with: a founder effect Clin. Biochem. 30 607-612

[9] Dubart A(2000)Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria Hum. Hered. 50 247-250

[10] Beaupain D(1972)Decreased red cell uroporphyrinogen I synthase activity in acute intermittent porphyria J. Clin. Invest. 51 2530-2535