TY  - GEN
AU  - Matamala, Nerea
AU  - Gomez-Mariano, Gema Maria
AU  - Perez, Jose Antonio
AU  - Baladron-Jimenez, Beatriz Isabel
AU  - Torres-Durán, María
AU  - Michel, Francisco Javier
AU  - Saez, Raquel
AU  - Hernández-Pérez, Jose María
AU  - Belmonte, Irene
AU  - Rodriguez-Frias, Francisco
AU  - Blanco, Ignacio
AU  - Strnad, Pavel
AU  - Janciauskiene, Sabina
AU  - Martinez-Delgado, Beatriz
PY  - 2020
DO  - 10.1165/rcmb.2020-0021OC
UR  - http://hdl.handle.net/20.500.12105/17264
AB  - 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,...
LA  - eng
PB  - American Thoracic Society (ATS)
KW  - Alpha-1 antitrypsin
KW  - SERPINA 1 genetic mutations
KW  - PI*S allele
KW  - Polymerization
KW  - Adult
KW  - Alleles
KW  - DNA Mutational Analysis
KW  - Female
KW  - Gene Frequency
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Phenotype
KW  - alpha 1-Antitrypsin
KW  - alpha 1-Antitrypsin Deficiency
TI  - New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency
TY  - research article
ER  -