Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal

标题
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
作者
关键词
Alpha-1-antitrypsin deficiency, Null alleles, Mutation recurrence, Recombinant alleles, Rare variant distribution
出版物
RESPIRATORY MEDICINE
Volume 116, Issue -, Pages 8-18
出版商
Elsevier BV
发表日期
2016-05-04
DOI
10.1016/j.rmed.2016.05.002

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