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Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update

In alpha-1 antitrypsin deficiency (AATD), the Z allele is present in 98% of cases with severe disease, and knowledge of the frequency of this allele is essential from a public health perspective. However, there is a remarkable lack of epidemiological data on AATD worldwide, and many of the data curr...

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Publicat a:Int J Chron Obstruct Pulmon Dis
Autors principals: Blanco, Ignacio, Bueno, Patricia, Diego, Isidro, Pérez-Holanda, Sergio, Casas-Maldonado, Francisco, Esquinas, Cristina, Miravitlles, Marc
Format: Artigo
Idioma:Inglês
Publicat: Dove Medical Press 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5315200/
https://ncbi.nlm.nih.gov/pubmed/28243076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/COPD.S125389
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