Article
Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.
International journal of chronic obstructive pulmonary disease - 1 Jan 2016
Belmonte Irene, Barrecheguren Miriam, López-Martínez Rosa M, Esquinas Cristina, Rodríguez Esther, Miravitlles Marc, Rodríguez-Frías Francisco
Abstract excerpt
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 Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.