-
1
-
-
0000713561
-
α1-Antitrypsin deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Cox DW. α1-Antitrypsin deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 7th ed. New York: McGraw-Hill, 1995:4125-4158.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease. 7th Ed.
, pp. 4125-4158
-
-
Cox, D.W.1
-
2
-
-
0019425866
-
Inhibition of human natural cytotoxicity by macromolecular antiproteases
-
Hudig D, Haverty T, Fulcher C, Redelman D, Mendelsohn J. Inhibition of human natural cytotoxicity by macromolecular antiproteases. J Immunol 1981;126:1569-1574.
-
(1981)
J Immunol
, vol.126
, pp. 1569-1574
-
-
Hudig, D.1
Haverty, T.2
Fulcher, C.3
Redelman, D.4
Mendelsohn, J.5
-
3
-
-
0021811856
-
The role of alpha-1-antitrypsin deficiency in the pathogenesis of immune disorders
-
Breit SN, Walkefield D, Robinson JP, Luckhurst E, Clark P, Penny R. The role of alpha-1-antitrypsin deficiency in the pathogenesis of immune disorders. Clin Immunol Immunopathol 1985;35:363-380.
-
(1985)
Clin Immunol Immunopathol
, vol.35
, pp. 363-380
-
-
Breit, S.N.1
Walkefield, D.2
Robinson, J.P.3
Luckhurst, E.4
Clark, P.5
Penny, R.6
-
4
-
-
0020094411
-
Assignment of human α1-antitrypsin to chromosome 14 by somatic cell hybrid analysis
-
Darlington GJ, Astrin KH, Muirhead SP, Desnick RJ, Smith M. Assignment of human α1-antitrypsin to chromosome 14 by somatic cell hybrid analysis. Proc Natl Acad Sci U S A 1982;79:870-873.
-
(1982)
Proc Natl Acad Sci U S A
, vol.79
, pp. 870-873
-
-
Darlington, G.J.1
Astrin, K.H.2
Muirhead, S.P.3
Desnick, R.J.4
Smith, M.5
-
5
-
-
0028150714
-
Identification and DNA sequence analysis of 15 new α1-antitrypsin variants, including two P1*Q0 alleles and one deficient P1*M allele
-
Faber J-P, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K. Identification and DNA sequence analysis of 15 new α1-antitrypsin variants, including two P1*Q0 alleles and one deficient P1*M allele. Am J Genet 1994;55:1113-1121.
-
(1994)
Am J 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
-
6
-
-
0017163949
-
Amino acid substitution Glu-Lys in α1-antitrypsin PiZ
-
Jeppsson J-O. Amino acid substitution Glu-Lys in α1-antitrypsin PiZ. FEBS Lett 1976;65:195-197.
-
(1976)
FEBS Lett
, vol.65
, pp. 195-197
-
-
Jeppsson, J.-O.1
-
7
-
-
0017195778
-
Molecular abnormality of human α1-antitrypsin variant (PiZ) associated with plasma activity efficiency
-
Yoshida A, Lieberman J, Gaidulis L, Ewing C. Molecular abnormality of human α1-antitrypsin variant (PiZ) associated with plasma activity efficiency. Proc Natl Acad Sci U S A 1976;73:1324-1328.
-
(1976)
Proc Natl Acad Sci U S A
, vol.73
, pp. 1324-1328
-
-
Yoshida, A.1
Lieberman, J.2
Gaidulis, L.3
Ewing, C.4
-
8
-
-
0017099344
-
Liver disease in alpha 1-antitrypsin deficiency detected by screening of 200,000 infants
-
Sveger T. Liver disease in alpha 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
-
9
-
-
0022257475
-
DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z
-
Cox DW, Woo SLC, Mansfield T. DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature 1985;316:79-81.
-
(1985)
Nature
, vol.316
, pp. 79-81
-
-
Cox, D.W.1
Woo, S.L.C.2
Mansfield, T.3
-
10
-
-
0019406010
-
Liver disease and intermediate α1-antitrypsin
-
Eriksson S. Liver disease and intermediate α1-antitrypsin. Acta Med Scand;1981;210:241-244.
-
(1981)
Acta Med Scand
, vol.210
, pp. 241-244
-
-
Eriksson, S.1
|