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α－1抗胰蛋白酶缺乏
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相关基因
SERPINA1
位点：RS17580
位点：RS28929474
Fujimoto K, et al. Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases. 2010
Mihalache F, et al. Heterozygosity for the alpha1-antitrypsin Z allele may confer genetic risk of cholangiocarcinoma. 2011
Lee PL, et al. Genetic polymorphisms and susceptibility to lung disease. 2006
Kok KF, et al. Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study. 2010
Ferrarotti I, et al. Serum levels and genotype distribution of α1-antitrypsin in the general population. 2012
Yoshida A, et al. Molecular abnormality of PI S variant of human alpha1-antitrypsin. 1977
Curiel D, et al. Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin. 1989
Thun GA, et al. SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort. 2012
Pérez-Rubio G, et al. Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values. 2015
Fujimoto K, et al. Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases. 2010
Mihalache F, et al. Heterozygosity for the alpha1-antitrypsin Z allele may confer genetic risk of cholangiocarcinoma. 2011
Lee PL, et al. Genetic polymorphisms and susceptibility to lung disease. 2006
Kok KF, et al. Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study. 2010
Ferrarotti I, et al. Serum levels and genotype distribution of α1-antitrypsin in the general population. 2012
Brantly M, et al. Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation. 1988
Hendrick SJ, et al. Alpha 1-antitrypsin deficiency associated with panniculitis. 1988
Dycaico MJ, et al. Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model. 1988
Pérez-Rubio G, et al. Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values. 2015
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