Article
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
American journal of respiratory cell and molecular biology - 1 Oct 2020
Matamala Nerea, Gomez-Mariano Gema, Perez Jose Antonio, Baladrón Beatriz, Torres-Durán María, Michel Francisco Javier, Saez Raquel, Hernández-Pérez Jose María, Belmonte Irene, Rodriguez-Frias Francisco, Blanco Ignacio, Strnad Pavel, Janciauskiene Sabina, Martinez-Delgado Beatriz
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the SERPINA1 (Serpin family A member 1) gene. The Pi*S (Glu264Val) is one of the most frequent deficient alleles of AATD, showing high incidence in the Iberian Peninsula. Herein, we describe two new alleles carrying an S mutation but producing a null phenotype: QOVigo and QOAachen. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.