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Volumn 92, Issue 3, 1998, Pages 367-377

α1-Antitrypsin deficiency in Europe: Geographical distribution of Pi types S and Z

Author keywords

[No Author keywords available]

Indexed keywords

LEUKOCYTE ELASTASE; PROTEINASE;

EID: 0031966749     PISSN: 09546111     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0954-6111(98)90278-5     Document Type: Review
Times cited : (117)

References (92)
  • 1
    • 84907041622 scopus 로고
    • The electrophoretic alpha1-globulin pattern of serum in alpha-1-antitrypsin deficiency
    • Laurell CB, Eriksson S. The electrophoretic alpha1-globulin pattern of serum in alpha-1-antitrypsin deficiency. Scand J Clin Invest 1963; 15: 132-140.
    • (1963) Scand J Clin Invest , vol.15 , pp. 132-140
    • Laurell, C.B.1    Eriksson, S.2
  • 2
    • 0013828812 scopus 로고
    • Studies in alpha-1-antitrypsin deficiency
    • Eriksson S. Studies in alpha-1-antitrypsin deficiency. Acta Med Scand 1965; 177 (Suppl. 432): 1-85.
    • (1965) Acta Med Scand , vol.177 , Issue.432 SUPPL. , pp. 1-85
    • Eriksson, S.1
  • 3
    • 0016097113 scopus 로고
    • Alpha-1-antitrypsin and its deficiency
    • Kueppers F, Black LF. Alpha-1-antitrypsin and its deficiency. Am Rev Respir Dis 1974; 110: 176-194.
    • (1974) Am Rev Respir Dis , vol.110 , pp. 176-194
    • Kueppers, F.1    Black, L.F.2
  • 4
    • 0020678269 scopus 로고
    • Alpha-1-antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z: A survey by the British Thoracic Association
    • Tobin MJ, Cook PJL, Hutchison DCS. Alpha-1-antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z: a survey by the British Thoracic Association. Br J Dis Chest 1983; 77: 14-27.
    • (1983) Br J Dis Chest , vol.77 , pp. 14-27
    • Tobin, M.J.1    Cook, P.J.L.2    Hutchison, D.C.S.3
  • 5
    • 0023795389 scopus 로고
    • Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms
    • Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988; 138: 327-336.
    • (1988) Am Rev Respir Dis , vol.138 , pp. 327-336
    • Brantly, M.L.1    Paul, L.D.2    Miller, B.H.3    Falk, R.T.4    Wu, M.5    Crystal, R.G.6
  • 6
    • 0014530551 scopus 로고
    • Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognised inherited disorder
    • Sharp HL, Bridges RA, Krivit W, Freier EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognised inherited disorder. J Lab Clin Med 1969; 73: 934-939.
    • (1969) J Lab Clin Med , vol.73 , pp. 934-939
    • Sharp, H.L.1    Bridges, R.A.2    Krivit, W.3    Freier, E.F.4
  • 7
    • 0022637178 scopus 로고
    • Risk of cirrhosis and primary liver cancer in alpha-1-antitrypsin deficiency
    • Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha-1-antitrypsin deficiency. N Engl J Med 1986; 314: 736-739.
    • (1986) N Engl J Med , vol.314 , pp. 736-739
    • Eriksson, S.1    Carlson, J.2    Velez, R.3
  • 8
    • 0024558667 scopus 로고
    • Alpha-1-antitrypsin deficiency: Lessons learned from the bedside to the gene and back again. Historic perspectives
    • Eriksson S. Alpha-1-antitrypsin deficiency: lessons learned from the bedside to the gene and back again. Historic perspectives. Chest 1989; 95: 181-189.
    • (1989) Chest , vol.95 , pp. 181-189
    • Eriksson, S.1
  • 9
    • 0013814438 scopus 로고
    • Hereditary variants of serum alpha-1-antitrypsin
    • Axelsson U, Laurell CB. Hereditary variants of serum alpha-1-antitrypsin. Am J Hum Genet 1965; 17: 466-472.
    • (1965) Am J Hum Genet , vol.17 , pp. 466-472
    • Axelsson, U.1    Laurell, C.B.2
  • 10
    • 0005065313 scopus 로고
    • Serum prealbumin: Polymorphism in man
    • Fagerhol MK, Braend M. Serum prealbumin: polymorphism in man. Science 1965; 149: 986-987.
    • (1965) Science , vol.149 , pp. 986-987
    • Fagerhol, M.K.1    Braend, M.2
  • 11
    • 0014086756 scopus 로고
    • The polymorphism of pre-albumins' and alpha-1-antitrypsin in human sera
    • Fagerhol MK, Laurell CB. The polymorphism of pre-albumins' and alpha-1-antitrypsin in human sera. Clin Chim Acta 1967; 16: 199-203.
    • (1967) Clin Chim Acta , vol.16 , pp. 199-203
    • Fagerhol, M.K.1    Laurell, C.B.2
  • 12
    • 0016173108 scopus 로고
    • Polymorphism of plasma alpha-1-antitrypsin (Pi system). Demonstration by electrofocusing on polyacrylamide gel
    • Arnaud P, Chapuis-Cellier C, Creyssel R. Polymorphism of plasma alpha-1-antitrypsin (Pi system). Demonstration by electrofocusing on polyacrylamide gel. C R Seances Soc Biol Ses Fil 1974; 168: 58-64.
    • (1974) C R Seances Soc Biol Ses Fil , vol.168 , pp. 58-64
    • Arnaud, P.1    Chapuis-Cellier, C.2    Creyssel, R.3
  • 13
    • 0016343441 scopus 로고
    • A new method for determination of alpha-1-antitrypsin phenotypes using isoelectric focusing on polyacrylamide gel slabs
    • Allen RC, Harley RA, Talamo RC. A new method for determination of alpha-1-antitrypsin phenotypes using isoelectric focusing on polyacrylamide gel slabs. Am J Clin Pathol 1974; 62: 732-739.
    • (1974) Am J Clin Pathol , vol.62 , pp. 732-739
    • Allen, R.C.1    Harley, R.A.2    Talamo, R.C.3
  • 14
    • 0017095515 scopus 로고
    • Alpha-1-antitrypsin: Common subtypes of Pi M
    • Frants RR, Eriksson AW. Alpha-1-antitrypsin: common subtypes of Pi M. Hum Hered 1976; 26: 435-440.
    • (1976) Hum Hered , vol.26 , pp. 435-440
    • Frants, R.R.1    Eriksson, A.W.2
  • 15
    • 0028150714 scopus 로고
    • Identification and DNA sequence analysis of 15 new alpha-1-antitrypsin variants, including two PI*QO alleles and one deficient PI*M allele
    • Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K. Identification and DNA sequence analysis of 15 new alpha-1-antitrypsin variants, including two PI*QO alleles and one deficient PI*M allele. Am J Hum Genet 1994; 55: 1113-1121.
    • (1994) Am J Hum Genet , vol.55 , pp. 1113-1121
    • Faber, J.P.1    Poller, W.2    Weidinger, S.3    Kirchgesser, M.4    Schwaab, R.5    Bidlingmaier, F.6    Olek, K.7
  • 16
    • 0019349192 scopus 로고
    • The Pi polymorphism: Genetic, biochemical, and clinical aspects of human alpha-1-antitrypsin
    • Fagerhol MK, Cox DW. The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha-1-antitrypsin. Adv Hum Genet 1981; 11: 1-62.
    • (1981) Adv Hum Genet , vol.11 , pp. 1-62
    • Fagerhol, M.K.1    Cox, D.W.2
  • 18
    • 0030949205 scopus 로고    scopus 로고
    • Molecular basis, clinical consequences and diagnosis of alpha-1-antitrypsin deficiency
    • Norman MR, Mowat AP, Hutchison DCS. Molecular basis, clinical consequences and diagnosis of alpha-1-antitrypsin deficiency. Ann Clin Biochem 1997; 34: 230-246.
    • (1997) Ann Clin Biochem , vol.34 , pp. 230-246
    • Norman, M.R.1    Mowat, A.P.2    Hutchison, D.C.S.3
  • 19
    • 0021233718 scopus 로고
    • Typing of genetic variants of alpha-1-antitrypsin from dried blood
    • Jeppsson JO, Sveger T. Typing of genetic variants of alpha-1-antitrypsin from dried blood. Scand J Clin Lab Invest 1984; 44: 413-415.
    • (1984) Scand J Clin Lab Invest , vol.44 , pp. 413-415
    • Jeppsson, J.O.1    Sveger, T.2
  • 20
    • 0025785326 scopus 로고
    • Enzyme immunoassay screening of alpha-1-antitrypsin in dried blood spots from 39 289 newborns
    • Schoos R, Dodinval-Versie J, Verloes A, Lambotte C, Koulischer L. Enzyme immunoassay screening of alpha-1-antitrypsin in dried blood spots from 39 289 newborns. Clin Chem 1991; 37: 821-825.
    • (1991) Clin Chem , vol.37 , pp. 821-825
    • Schoos, R.1    Dodinval-Versie, J.2    Verloes, A.3    Lambotte, C.4    Koulischer, L.5
  • 22
    • 0026520129 scopus 로고
    • Alpha-1-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes
    • Bruun-Petersen K, Bruun-Petersen G, Dahl R et al. Alpha-1-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes. Eur Respir J 1992; 5: 531-537.
    • (1992) Eur Respir J , vol.5 , pp. 531-537
    • Bruun-Petersen, K.1    Bruun-Petersen, G.2    Dahl, R.3
  • 24
    • 0021210072 scopus 로고
    • Pi phenotypes in patients with ankylosing spondylitis, acute anterior uveitis, psoriasis and chronic prostatitis
    • Moller P, Fagerhol MK. Pi phenotypes in patients with ankylosing spondylitis, acute anterior uveitis, psoriasis and chronic prostatitis. Clin Genet 1984; 26: 339-341.
    • (1984) Clin Genet , vol.26 , pp. 339-341
    • Moller, P.1    Fagerhol, M.K.2
  • 25
    • 0023830629 scopus 로고
    • Distribution of alpha-1-anti-trypsin phenotypes in Sweden
    • Hjalmarsson K. Distribution of alpha-1-anti-trypsin phenotypes in Sweden. Hum Hered 1988; 38: 27-30.
    • (1988) Hum Hered , vol.38 , pp. 27-30
    • Hjalmarsson, K.1
  • 26
    • 0018862818 scopus 로고
    • Alpha-1-antitrypsin phenotypes in Northern Sweden
    • Beckman G, Beckman L, Nordenson I. Alpha-1-antitrypsin phenotypes in Northern Sweden. Hum Hered 1980; 30: 129-135.
    • (1980) Hum Hered , vol.30 , pp. 129-135
    • Beckman, G.1    Beckman, L.2    Nordenson, I.3
  • 28
    • 0014633658 scopus 로고
    • Serum Pi types in some Lappish and Finnish populations
    • Fagerhol MK, Eriksson AW, Monn E. Serum Pi types in some Lappish and Finnish populations. Hum Hered 1969; 19: 360-364.
    • (1969) Hum Hered , vol.19 , pp. 360-364
    • Fagerhol, M.K.1    Eriksson, A.W.2    Monn, E.3
  • 29
    • 0017877217 scopus 로고
    • Reliable classification of six Pi M subtypes by separator isoelectric focusing
    • Frants RR, Eriksson AW. Reliable classification of six Pi M subtypes by separator isoelectric focusing. Hum Hered 1978; 28: 201-209.
    • (1978) Hum Hered , vol.28 , pp. 201-209
    • Frants, R.R.1    Eriksson, A.W.2
  • 31
    • 0019996198 scopus 로고
    • Alpha-1-antitrypsin: The PiM subtypes and serum concentrations in Finnish newborns
    • Rantala H, Finni K, Similä S. Alpha-1-antitrypsin: the PiM subtypes and serum concentrations in Finnish newborns. Hum Hered 1982; 32: 228-232.
    • (1982) Hum Hered , vol.32 , pp. 228-232
    • Rantala, H.1    Finni, K.2    Similä, S.3
  • 32
    • 0022643513 scopus 로고
    • Distribution of alpha-1-antitrypsin (Pi) phenotypes in Denmark determined by separator isoelectric focusing in agarose gel
    • Thymann M. Distribution of alpha-1-antitrypsin (Pi) phenotypes in Denmark determined by separator isoelectric focusing in agarose gel. Hum Hered 1986; 36: 19-23.
    • (1986) Hum Hered , vol.36 , pp. 19-23
    • Thymann, M.1
  • 33
    • 0014953074 scopus 로고
    • Investigations on the population genetics of the alpha-1-antitrypsin polymorphism
    • Kellermann G, Walter H. Investigations on the population genetics of the alpha-1-antitrypsin polymorphism. Humangenetik 1970; 10: 145-150.
    • (1970) Humangenetik , vol.10 , pp. 145-150
    • Kellermann, G.1    Walter, H.2
  • 34
    • 0017273478 scopus 로고
    • Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups
    • Hoffmann JJ, van den Broek WG. Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups. Hum Genet 1976; 32: 43-48.
    • (1976) Hum Genet , vol.32 , pp. 43-48
    • Hoffmann, J.J.1    Van Den Broek, W.G.2
  • 35
    • 0017621808 scopus 로고
    • Population genetics of alpha-1-antitrypsin in the Netherlands. Description of a new electrophoretic variant
    • Klasen EC, Franken C, Volkers WS, Bernini LF. Population genetics of alpha-1-antitrypsin in the Netherlands. Description of a new electrophoretic variant. Hum Genet 1977; 37: 303-313.
    • (1977) Hum Genet , vol.37 , pp. 303-313
    • Klasen, E.C.1    Franken, C.2    Volkers, W.S.3    Bernini, L.F.4
  • 36
    • 0020378416 scopus 로고
    • PI (alpha-1-antitrypsin) sub-types: Frequency of PI*M4 in several populations
    • Klasen EC, Bos A, Simmelink HD. PI (alpha-1-antitrypsin) sub-types: frequency of PI*M4 in several populations. Hum Genet 1982; 62: 139-141.
    • (1982) Hum Genet , vol.62 , pp. 139-141
    • Klasen, E.C.1    Bos, A.2    Simmelink, H.D.3
  • 37
    • 0016591823 scopus 로고
    • Alpha-1-antitrypsin phenotypes in Northern Ireland
    • Blundell G, Frazer A. Alpha-1-antitrypsin phenotypes in Northern Ireland. Ann Hum Genet 1975; 38: 289-294.
    • (1975) Ann Hum Genet , vol.38 , pp. 289-294
    • Blundell, G.1    Frazer, A.2
  • 38
    • 0018332522 scopus 로고
    • Pi phenotypes of alpha-1-antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies
    • Arnaud P, Galbraith RM, Faulk WP, Black C. Pi phenotypes of alpha-1-antitrypsin in Southern England: identification of M subtypes and implications for genetic studies. Clin Genet 1979; 15: 406-410.
    • (1979) Clin Genet , vol.15 , pp. 406-410
    • Arnaud, P.1    Galbraith, R.M.2    Faulk, W.P.3    Black, C.4
  • 39
    • 0004499916 scopus 로고
    • A rapid high resolution separator IEF technique for phenotyping alpha-1-antitrypsin
    • Phillips C, Whitehouse D. A rapid high resolution separator IEF technique for phenotyping alpha-1-antitrypsin. Adv Foren Haemogenet 1990; 3: 274-276.
    • (1990) Adv Foren Haemogenet , vol.3 , pp. 274-276
    • Phillips, C.1    Whitehouse, D.2
  • 40
    • 0016591821 scopus 로고
    • The genetics of alpha-1-antitrypsin: A family study in England and Scotland
    • Cook PJL. The genetics of alpha-1-antitrypsin: a family study in England and Scotland. Ann Hum Genet 1975; 38: 275-287.
    • (1975) Ann Hum Genet , vol.38 , pp. 275-287
    • Cook, P.J.L.1
  • 41
    • 0024501558 scopus 로고
    • Alpha-1-antitrypsin (PI) phenotypes in two rheumatic diseases: A reappraisal of the association of PI subtypes in rheumatoid arthritis
    • Papiha SS, Pal B, Walker D, Mangion P, Hossain MA. Alpha-1-antitrypsin (PI) phenotypes in two rheumatic diseases: a reappraisal of the association of PI subtypes in rheumatoid arthritis. Ann Rheum Dis 1989; 48: 48-52.
    • (1989) Ann Rheum Dis , vol.48 , pp. 48-52
    • Papiha, S.S.1    Pal, B.2    Walker, D.3    Mangion, P.4    Hossain, M.A.5
  • 42
    • 0016467713 scopus 로고
    • Heterozygous alpha-1-antitrypsin deficiency and cirrhosis in adults, a fortuitous association
    • Morin T, Martin JP, Feldmann G, Rueff B, Benhamou JP, Ropartz C. Heterozygous alpha-1-antitrypsin deficiency and cirrhosis in adults, a fortuitous association. Lancet 1975; i: 250-251.
    • (1975) Lancet , vol.1 , pp. 250-251
    • Morin, T.1    Martin, J.P.2    Feldmann, G.3    Rueff, B.4    Benhamou, J.P.5    Ropartz, C.6
  • 43
    • 0019395266 scopus 로고
    • Genetic variations of serum alpha-1-antitrypsin (Pi types) in Normans. Common Pi M subtypes and new phenotypes
    • Charlionet R, Sesboue R, Morcamp C, Lefebvre F, Martin JP. Genetic variations of serum alpha-1-antitrypsin (Pi types) in Normans. Common Pi M subtypes and new phenotypes. Hum Hered 1981; 31: 104-109.
    • (1981) Hum Hered , vol.31 , pp. 104-109
    • Charlionet, R.1    Sesboue, R.2    Morcamp, C.3    Lefebvre, F.4    Martin, J.P.5
  • 47
    • 0026048622 scopus 로고
    • Alpha-1-antitrypsin (PI) polymorphism in France, with special regard to the PI*Z allele
    • Sesboue R, Martin JP. Alpha-1-antitrypsin (PI) polymorphism in France, with special regard to the PI*Z allele. Hum Hered 1991; 41: 340-346.
    • (1991) Hum Hered , vol.41 , pp. 340-346
    • Sesboue, R.1    Martin, J.P.2
  • 49
    • 0014228199 scopus 로고
    • Serum Pi types in some European, American, Asian and African populations
    • Fagerhol MK, Tenfjord OW. Serum Pi types in some European, American, Asian and African populations. Acta Pathol Microbiol Scand 1968; 72: 601-608.
    • (1968) Acta Pathol Microbiol Scand , vol.72 , pp. 601-608
    • Fagerhol, M.K.1    Tenfjord, O.W.2
  • 52
    • 0020513253 scopus 로고
    • Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain)
    • Carracedo A, Concheiro L. Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain). Z Rechtsmed 1983; 90: 153-158.
    • (1983) Z Rechtsmed , vol.90 , pp. 153-158
    • Carracedo, A.1    Concheiro, L.2
  • 54
    • 0025415277 scopus 로고
    • Polymorphism of haptoglobin (HP), group specific component (GC) and alpha-1-antitrypsin (PI) in the resident population of the Basque Country (Spain)
    • Garcia-Orad A, Arizti P, Esteban JL, Garcia-Orad C, Garcia-Arenzana C, Constans J, de Pancorbo MM. Polymorphism of haptoglobin (HP), group specific component (GC) and alpha-1-antitrypsin (PI) in the resident population of the Basque Country (Spain). Gene Georg 1990; 4: 43-51.
    • (1990) Gene Georg , vol.4 , pp. 43-51
    • Garcia-Orad, A.1    Arizti, P.2    Esteban, J.L.3    Garcia-Orad, C.4    Garcia-Arenzana, C.5    Constans, J.6    De Pancorbo, M.M.7
  • 56
    • 0017179588 scopus 로고
    • Polymorphism of alpha-1-antitrypsin in a Portuguese population
    • Geada HM, Albino JA, Manso C. Polymorphism of alpha-1-antitrypsin in a Portuguese population. Hum Genet 1976; 32: 109-113.
    • (1976) Hum Genet , vol.32 , pp. 109-113
    • Geada, H.M.1    Albino, J.A.2    Manso, C.3
  • 57
    • 0023022450 scopus 로고
    • Alpha-1-proteinase inhibitor phenotypes in Portuguese population
    • Santos-Rosa MA, Robalo-Cordeiro AJ. Alpha-1-proteinase inhibitor phenotypes in Portuguese population. Eur J Respir Dis 1986; 69 (Suppl. 146): 167-173.
    • (1986) Eur J Respir Dis , vol.69 , Issue.146 SUPPL. , pp. 167-173
    • Santos-Rosa, M.A.1    Robalo-Cordeiro, A.J.2
  • 58
    • 0014727102 scopus 로고
    • Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha-1-antitrypsin (Pi) in a German population
    • Goedde HW, Benkmann HG, Christ I, Singh S, Hirth L. Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha-1-antitrypsin (Pi) in a German population. Humangenetik 1970; 10: 235-243.
    • (1970) Humangenetik , vol.10 , pp. 235-243
    • Goedde, H.W.1    Benkmann, H.G.2    Christ, I.3    Singh, S.4    Hirth, L.5
  • 59
    • 0018568631 scopus 로고
    • Inheritance of PiM subtypes. A study of 151 families with a total of 242 children and of 142 mother-child pairs
    • Cleve H, Patutschnick W, Strecker K, Nevo S. Inheritance of PiM subtypes. A study of 151 families with a total of 242 children and of 142 mother-child pairs. Hum Hered 1979; 29: 351-354.
    • (1979) Hum Hered , vol.29 , pp. 351-354
    • Cleve, H.1    Patutschnick, W.2    Strecker, K.3    Nevo, S.4
  • 60
    • 0017621941 scopus 로고
    • Classification of alpha-1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype
    • Genz T, Martin JP, Cleve H. Classification of alpha-1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype. Hum Genet 1977; 38: 325-332.
    • (1977) Hum Genet , vol.38 , pp. 325-332
    • Genz, T.1    Martin, J.P.2    Cleve, H.3
  • 61
    • 0018819566 scopus 로고
    • Alpha-1-antitrypsin: The PiMM subtypes. Do they play a role in development of chronic obstructive pulmonary diseases?
    • Bencze K, Sabatke L, Fruhmann G. Alpha-1-antitrypsin: the PiMM subtypes. Do they play a role in development of chronic obstructive pulmonary diseases? Chest 1980; 77: 761-763.
    • (1980) Chest , vol.77 , pp. 761-763
    • Bencze, K.1    Sabatke, L.2    Fruhmann, G.3
  • 62
    • 13144288494 scopus 로고
    • Investigations on the Pi polymorphism in a German population - Evidence for two new rare alleles, PiT and Pi
    • Künhl P, Spielmann W. Investigations on the Pi polymorphism in a German population - evidence for two new rare alleles, PiT and Pi
    • (1979) Forens Sci Int , vol.14 , pp. 135
    • Künhl, P.1    Spielmann, W.2
  • 63
    • 0019127285 scopus 로고
    • Pi sub-typing by isoelectric focusing: Further genetic studies and application to paternity examinations
    • Weidinger S, Schwartzfischer F, Cleve H. Pi sub-typing by isoelectric focusing: further genetic studies and application to paternity examinations. Z Rechtsmed 1980; 86: 1-7.
    • (1980) Z Rechtsmed , vol.86 , pp. 1-7
    • Weidinger, S.1    Schwartzfischer, F.2    Cleve, H.3
  • 64
    • 0020004670 scopus 로고
    • Alpha-1-antitrypsin: Evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany
    • Weidinger S, Cleve H, Patutschnick W. Alpha-1-antitrypsin: evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany. Z Rechtsmed 1982; 88: 203-211.
    • (1982) Z Rechtsmed , vol.88 , pp. 203-211
    • Weidinger, S.1    Cleve, H.2    Patutschnick, W.3
  • 66
    • 0023885332 scopus 로고
    • Polymorphism of alpha-1-antitrypsin (Pi) in the Swiss population determined by isoelectric focusing with an immobilized pH gradient
    • Bär W, Kratzer A. Polymorphism of alpha-1-antitrypsin (Pi) in the Swiss population determined by isoelectric focusing with an immobilized pH gradient. Hum Hered 1988; 38: 106-110.
    • (1988) Hum Hered , vol.38 , pp. 106-110
    • Bär, W.1    Kratzer, A.2
  • 67
    • 0024266978 scopus 로고
    • Alpha-1-antitrypsin deficiency in two population groups in north Italy
    • Pittschieler K, Massi G. Alpha-1-antitrypsin deficiency in two population groups in north Italy. Padiatr Padol 1988; 23: 307-311.
    • (1988) Padiatr Padol , vol.23 , pp. 307-311
    • Pittschieler, K.1    Massi, G.2
  • 68
    • 0019955407 scopus 로고
    • Alpha-1-antitrypsin (alpha-1-AT) phenotypes and PiM subtypes in Italy. Evidence of considerable geographic variability
    • Massi G, Cotumaccio R, Auconi P. Alpha-1-antitrypsin (alpha-1-AT) phenotypes and PiM subtypes in Italy. Evidence of considerable geographic variability. Hum Genet 1982; 61: 76-77.
    • (1982) Hum Genet , vol.61 , pp. 76-77
    • Massi, G.1    Cotumaccio, R.2    Auconi, P.3
  • 69
    • 0017803238 scopus 로고
    • Phenotype and gene distribution of alpha-1-antitrypsin in a North Italian population
    • Klasen EC, D'Andrea F, Bernini LF. Phenotype and gene distribution of alpha-1-antitrypsin in a North Italian population. Hum Hered 1978; 28: 474-478.
    • (1978) Hum Hered , vol.28 , pp. 474-478
    • Klasen, E.C.1    D'Andrea, F.2    Bernini, L.F.3
  • 71
    • 0017877459 scopus 로고
    • Alpha-1-antitrypsin phenotypes in newborns from Central and Southern Italy
    • Piantelli M, Auconi P, Musiani P. Alpha-1-antitrypsin phenotypes in newborns from Central and Southern Italy. Hum Hered 1978; 28: 468-473.
    • (1978) Hum Hered , vol.28 , pp. 468-473
    • Piantelli, M.1    Auconi, P.2    Musiani, P.3
  • 72
    • 0019859003 scopus 로고
    • Determination of alpha-1-antitrypsin subtypes in the population of Rome: A study in ultrathin-layer isoelectric focusing
    • Pascali VL, De Mercuric D. Determination of alpha-1-antitrypsin subtypes in the population of Rome: a study in ultrathin-layer isoelectric focusing. Hum Hered 1981; 31: 296-298.
    • (1981) Hum Hered , vol.31 , pp. 296-298
    • Pascali, V.L.1    De Mercuric, D.2
  • 73
    • 0019497394 scopus 로고
    • Alpha-1-antitrypsin phenotype and gene distribution in Southern Italy
    • Klasen EC. Alpha-1-antitrypsin phenotype and gene distribution in Southern Italy. Hum Hered 1981; 31: 180-182.
    • (1981) Hum Hered , vol.31 , pp. 180-182
    • Klasen, E.C.1
  • 74
    • 0021153880 scopus 로고
    • Genetic variants of human B component (BF system) and alpha-1-antitrypsin (P1 system) in a population from Sardinia
    • Davrinche C, Charlionet R, Rivat C, Sesboue R, Bayorek M, Arnone M. Genetic variants of human B component (BF system) and alpha-1-antitrypsin (P1 system) in a population from Sardinia. Hum Hered 1984; 34: 297-302.
    • (1984) Hum Hered , vol.34 , pp. 297-302
    • Davrinche, C.1    Charlionet, R.2    Rivat, C.3    Sesboue, R.4    Bayorek, M.5    Arnone, M.6
  • 75
    • 0028490551 scopus 로고
    • Alpha-1-antitrypsin (Pi) polymorphism in Serbia: Deviation of Pi M subtype distribution from the Hardy-Weinberg equilibrium
    • Jelić-Ivanović Z, Spasojević-Kalimanovska V, Topić A, Spasić S, Petrović V. Alpha-1-antitrypsin (Pi) polymorphism in Serbia: deviation of Pi M subtype distribution from the Hardy-Weinberg equilibrium. Gene Georg 1994; 8: 129-135.
    • (1994) Gene Georg , vol.8 , pp. 129-135
    • Jelić-Ivanović, Z.1    Spasojević-Kalimanovska, V.2    Topić, A.3    Spasić, S.4    Petrović, V.5
  • 80
    • 0028777942 scopus 로고
    • Polymorphism locus Pi (alpha-1-antitrypsin) of residents in the Poznan province
    • Kowalska A, Rujner J. Polymorphism locus Pi (alpha-1-antitrypsin) of residents in the Poznan province. Pol Tyg Lek 1994; 49: 195-197.
    • (1994) Pol Tyg Lek , vol.49 , pp. 195-197
    • Kowalska, A.1    Rujner, J.2
  • 81
    • 0021664686 scopus 로고
    • Genetic polymorphism and rare variants of alpha-1-antitrypsin in the population of Moscow. Research using isoelectric focusing on an ultrathin gel
    • Shurkhal AV, Podogas AV, Altukhov YP. Genetic polymorphism and rare variants of alpha-1-antitrypsin in the population of Moscow. Research using isoelectric focusing on an ultrathin gel. Genetika 1984; 20: 2066-2069.
    • (1984) Genetika , vol.20 , pp. 2066-2069
    • Shurkhal, A.V.1    Podogas, A.V.2    Altukhov, Y.P.3
  • 82
    • 0024218644 scopus 로고
    • Distribution of Pi phenotypes in normal subjects and subjects with diseases of the respiratory tract
    • Antonov MP, Petrukhin IS, Voitova TV, Portenko GM. Distribution of Pi phenotypes in normal subjects and subjects with diseases of the respiratory tract. Lab Delo 1988; 3 (10): 23-27.
    • (1988) Lab Delo , vol.3 , Issue.10 , pp. 23-27
    • Antonov, M.P.1    Petrukhin, I.S.2    Voitova, T.V.3    Portenko, G.M.4
  • 83
    • 0023784904 scopus 로고
    • Biochemical efficacy and safety of monthly augmentation therapy for alpha-1-antitrypsin deficiency
    • Hubbard RC, Sellers S, Czerski D, Stephens L, Crystal RG. Biochemical efficacy and safety of monthly augmentation therapy for alpha-1-antitrypsin deficiency. J Am Med Assoc 1988; 260: 1259-1264.
    • (1988) J Am Med Assoc , vol.260 , pp. 1259-1264
    • Hubbard, R.C.1    Sellers, S.2    Czerski, D.3    Stephens, L.4    Crystal, R.G.5
  • 84
    • 0002555730 scopus 로고
    • Population genetics (Hardy-Weinberg equilibrium and factors affecting it)
    • Emery AEH, Rimoin DL, eds. Edinburgh: Churchill Livingstone, chap. 9
    • Sofaer JA. Population genetics (Hardy-Weinberg equilibrium and factors affecting it). In: Emery AEH, Rimoin DL, eds. Principles and Practice of Medical Genetics, 2nd edition. Edinburgh: Churchill Livingstone, 1990, chap. 9.
    • (1990) Principles and Practice of Medical Genetics, 2nd Edition
    • Sofaer, J.A.1
  • 85
    • 0020663341 scopus 로고
    • Alpha-1-antitrypsin deficiency: Clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association
    • Hutchison DCS, Tobin MJ, Cook PJL. Alpha-1-antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association. Br J Dis Chest 1983; 77: 28-34.
    • (1983) Br J Dis Chest , vol.77 , pp. 28-34
    • Hutchison, D.C.S.1    Tobin, M.J.2    Cook, P.J.L.3
  • 87
    • 0025947931 scopus 로고
    • Population genetics of alpha-1-antitrypsin polymorphism in US whites, US blacks and African blacks
    • DeCroo S, Kamboh MI, Ferrell RE. Population genetics of alpha-1-antitrypsin polymorphism in US whites, US blacks and African blacks. Hum Hered 1991; 41: 215-221.
    • (1991) Hum Hered , vol.41 , pp. 215-221
    • DeCroo, S.1    Kamboh, M.I.2    Ferrell, R.E.3
  • 88
    • 0027989694 scopus 로고
    • Physical and genetic mapping of the serpin gene cluster at 14q32.1: Allelic association and a unique haplotype associated with alpha-1-antitrypsin deficiency
    • Byth BC, Billingsley GD, Cox DW. Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha-1-antitrypsin deficiency. Am J Hum Genet 1994; 55: 126-133.
    • (1994) Am J Hum Genet , vol.55 , pp. 126-133
    • Byth, B.C.1    Billingsley, G.D.2    Cox, D.W.3
  • 91
    • 0017099344 scopus 로고
    • 1-antitrypsin deficiency detected by screening of 200 000 infants
    • 1-antitrypsin deficiency detected by screening of 200 000 infants. N Engl J Med 1976; 294: 1316-1321.
    • (1976) N Engl J Med , vol.294 , pp. 1316-1321
    • Sveger, T.1


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