-
1
-
-
0024529042
-
The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategy for therapy
-
Crystal RG, Brantly M, Hubbard RC, et al. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategy for therapy. Chest. 1989;95:196-208.
-
(1989)
Chest
, vol.95
, pp. 196-208
-
-
Crystal, R.G.1
Brantly, M.2
Hubbard, R.C.3
-
2
-
-
0002582641
-
Alpha 1-antitrypsin genotypes and phenotypes
-
Crystal RG ed. New York: Dekker
-
Brantly M. Alpha 1-antitrypsin genotypes and phenotypes. In: Crystal RG ed. Alpha 1-Antitrypsin Deficiency. New York: Dekker, 1996:45-59.
-
(1996)
Alpha 1-Antitrypsin Deficiency
, pp. 45-59
-
-
Brantly, M.1
-
3
-
-
0035129485
-
Pattems of haplotype diversity within the serpin gene cluster at 14q32.1: Insights into the natural history of the α1-antitrypsin polymorphism
-
Seixas S, Garcia O, Trovoada MJ, et al. Pattems of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism. Hum Genet. 2001;108:20-30.
-
(2001)
Hum Genet
, vol.108
, pp. 20-30
-
-
Seixas, S.1
Garcia, O.2
Trovoada, M.J.3
-
4
-
-
0036433482
-
Worldwide racial and ethnic distribution of α1-antitrypsin deficiency. Summary of an analysis of published genetic epidemiologic surveys
-
De Serres F. Worldwide racial and ethnic distribution of α1-antitrypsin deficiency. Summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122:1818-1829.
-
(2002)
Chest
, vol.122
, pp. 1818-1829
-
-
De Serres, F.1
-
5
-
-
0027741886
-
Liver disease associated with alpha 1-antitrypsin deficiency
-
Perlmutter DH. Liver disease associated with alpha 1-antitrypsin deficiency. Prog Liver Dis. 1993;11:139-165.
-
(1993)
Prog Liver Dis
, vol.11
, pp. 139-165
-
-
Perlmutter, D.H.1
-
6
-
-
0002582643
-
Laboratory diagnosis of α1AT deficiency
-
Crystal RG ed. New York: Dekker
-
Brantly M. Laboratory diagnosis of α1AT deficiency. In: Crystal RG ed. Alpha 1-Antitrypsin Deficiency. New York: Dekker, 1996:211-226.
-
(1996)
Alpha 1-Antitrypsin Deficiency
, pp. 211-226
-
-
Brantly, M.1
-
7
-
-
0023898432
-
Molecular basis of alpha 1-antitrypsin deficiency
-
Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha 1-antitrypsin deficiency. Am J Med. 1988;84:13-31.
-
(1988)
Am J Med
, vol.84
, pp. 13-31
-
-
Brantly, M.1
Nukiwa, T.2
Crystal, R.G.3
-
8
-
-
0029970698
-
Polymerase chain reaction-mediated site-directed mutagenesis detection of Z and S alpha 1-antitrypsin alleles in family members
-
Hammerberg G, Keren DF. Polymerase chain reaction-mediated site-directed mutagenesis detection of Z and S alpha 1-antitrypsin alleles in family members. J Clin Lab Anal. 1996;10:384-388.
-
(1996)
J Clin Lab Anal
, vol.10
, pp. 384-388
-
-
Hammerberg, G.1
Keren, D.F.2
-
9
-
-
0033655814
-
Rapid analysis of alpha 1-antitrypsin PiZ genotype by a real-time PCR approach
-
Ortiz-Pallardo ME, Zhou H, Fischer HP, et al. Rapid analysis of alpha 1-antitrypsin PiZ genotype by a real-time PCR approach. J Mol Med. 2000;78:212-216.
-
(2000)
J Mol Med
, vol.78
, pp. 212-216
-
-
Ortiz-Pallardo, M.E.1
Zhou, H.2
Fischer, H.P.3
-
10
-
-
0023574216
-
Detection of alpha 1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization
-
Klasen EC, Hofker MH, van Paassen HM, et al. Detection of alpha 1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization. Clin Chim Acta. 1987; 170:201-207.
-
(1987)
Clin Chim Acta
, vol.170
, pp. 201-207
-
-
Klasen, E.C.1
Hofker, M.H.2
Van Paassen, H.M.3
-
11
-
-
0026713887
-
Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis
-
Tazelaar JP, Friedman KJ, Kline RS, et al. Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem. 1992;38:1486-1488.
-
(1992)
Clin Chem
, vol.38
, pp. 1486-1488
-
-
Tazelaar, J.P.1
Friedman, K.J.2
Kline, R.S.3
-
13
-
-
0034012627
-
Detection of alpha 1-antitrypsin PiZ individuals by SSCP and DNA sequencing in formalin-fixed and paraffin-embedded tissue: A comparison with immunohistochemical analysis
-
Ortiz-Pallardo ME, Ko Y, Sachinidis A, et al. Detection of alpha 1-antitrypsin PiZ individuals by SSCP and DNA sequencing in formalin-fixed and paraffin-embedded tissue: a comparison with immunohistochemical analysis. J Hepatol. 2000;32:406-411.
-
(2000)
J Hepatol
, vol.32
, pp. 406-411
-
-
Ortiz-Pallardo, M.E.1
Ko, Y.2
Sachinidis, A.3
-
14
-
-
0033052583
-
A national program for detection of α1-antitrypsin deficiency in Italy
-
Luisetti M, Massi G, Massobrio M, et al. A national program for detection of α1-antitrypsin deficiency in Italy. Respir Med. 1999;93:169-172.
-
(1999)
Respir Med
, vol.93
, pp. 169-172
-
-
Luisetti, M.1
Massi, G.2
Massobrio, M.3
-
15
-
-
0021743897
-
Silver-stained phenotyping alpha-1-antitrypsin in dried blood and serum specimens
-
Massi G, Marano G, Catalano F, et al. Silver-stained phenotyping alpha-1-antitrypsin in dried blood and serum specimens. Clin Chem. 1984;30: 1674-1676.
-
(1984)
Clin Chem
, vol.30
, pp. 1674-1676
-
-
Massi, G.1
Marano, G.2
Catalano, F.3
-
16
-
-
0018644002
-
Characterization of alpha-1-antitrypsin by isoelectric focusing on ultrathin polyacrylamide gel layer
-
Massi G, Fabiano A, Ragusa D, et al. Characterization of alpha-1-antitrypsin by isoelectric focusing on ultrathin polyacrylamide gel layer. Hum Genet. 1979;53:91-95.
-
(1979)
Hum Genet
, vol.53
, pp. 91-95
-
-
Massi, G.1
Fabiano, A.2
Ragusa, D.3
-
17
-
-
0032877043
-
α1-antitrypsin TaqI polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease
-
Benetazzo MG, Gilè LS, Bombieri C, et al. α1-antitrypsin TaqI polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease. Respir Med. 1999;93:648-654.
-
(1999)
Respir Med
, vol.93
, pp. 648-654
-
-
Benetazzo, M.G.1
Gilè, L.S.2
Bombieri, C.3
-
18
-
-
0036181236
-
A fast amplification-reverse hybridization assay kit to detect the most frequent deficient variants in the alpha-1-antitrypsin gene
-
Zorzetto M, Tamburnotti C, Maschietto B, et al. A fast amplification-reverse hybridization assay kit to detect the most frequent deficient variants in the alpha-1-antitrypsin gene. Respiration. 2001;69:81-85.
-
(2001)
Respiration
, vol.69
, pp. 81-85
-
-
Zorzetto, M.1
Tamburnotti, C.2
Maschietto, B.3
|