Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach

BACKGROUND AND OBJECTIVES: Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmal...

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Vydáno v:Int J Chron Obstruct Pulmon Dis
Hlavní autoři: Belmonte, Irene, Barrecheguren, Miriam, López-Martínez, Rosa M, Esquinas, Cristina, Rodríguez, Esther, Miravitlles, Marc, Rodríguez-Frías, Francisco
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove Medical Press 2016
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Original Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5113155/
https://ncbi.nlm.nih.gov/pubmed/27877030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/COPD.S115940
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