Article
Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update.
International journal of chronic obstructive pulmonary disease - 1 Jan 2017
Blanco Ignacio, Bueno Patricia, Diego Isidro, Pérez-Holanda Sergio, Casas-Maldonado Francisco, Esquinas Cristina, Miravitlles Marc
Abstract excerpt
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However, there is a remarkable lack of epidemiological data on AATD worldwide, and many of the data currently used are outdated. Therefore, the objective of this study was to update the knowledge of the frequency of the...
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