Identification of DNA polymorphisms associated with the V type α1-antitrypsin gene

Carrell, 1985, α1-Antitrypsin and the serpins: variation and countervariation, Trends Biochem Sci., 10, 20, 10.1016/0968-0004(85)90011-8 Brantly, 1988, Molecular basis of alpha-1-antitrypsin deficiency, Am. J. Med., 84, 13, 10.1016/S0002-9343(88)80066-4 Stein, 1996, What do dysfunctional serpins tell us about molecular mobility and disease?, Nat. Struct. Biol., 2, 96, 10.1038/nsb0295-96 Nukiwa, 1987, Characterization of the M1(Ala213) type of α1-antitrypsin, a newly recognized, common ‘normal’ α1-antitrypsin haplotype, Biochemistry, 26, 5259, 10.1021/bi00391a008 Gaillard, 1984, Ethnic differences in the occurrence of the M1(Ala213) haplotype of alpha-1-antitrypsin in asthmatic and non-asthmatic black and white South Africans, Clin. Genet., 45, 122, 10.1111/j.1399-0004.1994.tb04008.x Lomas, 1992, The mechanism of Z α1-antitrypsin accumulation in the liver, Nature, 357, 605, 10.1038/357605a0 Eriksson, 1989, Risk of cirrhosis and primary liver cancer in α1-antitrypsin deficiency, New Engl. J. Med., 314, 736, 10.1056/NEJM198603203141202 Elliot, 1996, Structural explanation for the deficiency of S α1-antitrypsin, Nat. Struct. Biol., 3, 910, 10.1038/nsb1196-910 Halkas, 1998, Variants of alpha-1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome, J. Med. Genet., 35, 6, 10.1136/jmg.35.1.6 Thomson, 1976, HLA antigens and atopic features in steroid response nephrotic syndrome of childhood, Lancet, 2, 765, 10.1016/S0140-6736(76)90600-0 Colp, 1993, Variants of α1-antitrypsin in Puerto Rican children with asthma, Chest, 103, 312, 10.1378/chest.103.3.812 Higuchi, 1989, Rapid efficient DNA extraction for PCR from cells or blood, Amplifications Issue, 2, 1 Davis, 1992, The pathologic spectrum of the nephropathy associated with α1-antitrypsin deficiency, Hum. Pathol., 23, 57, 10.1016/0046-8177(92)90012-R Cox, 1976, Rheumatoid arthritis and α1-antitrypsin, Lancet, 1, 1216 Pittelkow, 1988, Alpha-1-antitrypsin deficiency and panniculitis: perspectives on disease relationship and replacement therapy, Am. J. Med., 84, 80, 10.1016/0002-9343(88)90163-5 Segelmark, 1995, The Pi Z gene of alpha-1-antitrypsin as a determinant of outcome in PR 3-ANCA-positive vasculitis, Kidney Int., 48, 844, 10.1038/ki.1995.360 Faber, 1994, Identification and DNA sequence analysis of 15 new α1-antitrypsin variants including two PI*QO alleles and one deficient PI*M allele, Am. J. Hum. Genet., 55, 1113 Huber, 1989, Implications of the three dimensional structure of α1-antitrypsin for structure and function of serpins, Biochemistry, 28, 8951, 10.1021/bi00449a001 Straitikos, 1997, Major proteinase movement upon stable serpin-proteinase complex formation, Proc. Natl. Acad. Sci. USA, 94, 453, 10.1073/pnas.94.2.453 Byth, 1994, Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with α1-antitrypsin deficiency, Am. J. Hum. Genet., 55, 126