Article
Emphysema due to alpha-antitrypsin deficiency: familial study of the YBARCELONA variant.
Chest - 1 Jul 2003
Miravitlles Marc, Vilà Sara, Jardí Rosendo, de la Roza Cristian, Rodríguez-Frías Francisco, Vidal Rafael
Abstract excerpt
A 39-year-old female patient, an ex-smoker with an 8-pack-year smoking history and severe pulmonary emphysema of early onset, received a diagnosis of alpha(1)-antitrypsin (AAT) deficiency and proved to be a carrier of a new deficient variant, YBARCELONA, derived from the normal M1 variant with two substitutions: one in exon III and the other in exon V. AAT genotype of eight members of the same family and study of...
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