Clinical utility gene card for: α-1-antitrypsin deficiency.
作者信息
Janciauskiene Sabina, Ferrarotti Ilaria, Laenger Florian, Jonigk Danny, Luisetti Maurizio
机构信息
Department of Pulmonology, Hannover Medical School, Hannover, Germany.
出版信息
Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.246. Epub 2011 Jan 19.
Abstract
摘要
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Eur Respir J. 2010 May;35(5):960-8. doi: 10.1183/09031936.00069709.
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Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America.美国人群中α-1 抗胰蛋白酶缺乏症的种族差异。
Ther Adv Respir Dis. 2010 Apr;4(2):63-70. doi: 10.1177/1753465810365158.
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Conformational pathology of the serpins: themes, variations, and therapeutic strategies.丝氨酸蛋白酶抑制剂的构象病理学：主题、变体及治疗策略
Annu Rev Biochem. 2009;78:147-76. doi: 10.1146/annurev.biochem.78.082107.133320.
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Secondary outputs of alpha1-antitrypsin deficiency targeted detection programme.
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