TY  - JOUR
AU  - Matamala, Nerea
AU  - Lara, Beatriz
AU  - Gomez-Mariano, Gema
AU  - Martinez, Selene
AU  - Retana, Diana
AU  - Fernandez, Taiomara
AU  - Silvestre, Ramona Angeles
AU  - Belmonte, Irene
AU  - Rodriguez-Frias, Francisco
AU  - Vilar, Marçal
AU  - Saez, Raquel
AU  - Iturbe, Igor
AU  - Castillo, Silvia
AU  - Molina-Molina, Maria
AU  - Texido, Anna
AU  - Tirado-Conde, Gema
AU  - Lopez-Campos, Jose Luis
AU  - Posada, Manuel
AU  - Blanco, Ignacio
AU  - Janciauskiene, Sabina
AU  - Martinez-Delgado, Beatriz
PY  - 2018
DO  - 10.1165/rcmb.2017-0179OC
UR  - http://hdl.handle.net/10668/11897
T2  - American journal of respiratory cell and molecular biology
AB  - The SERPINA1 gene is highly polymorphic, with more than 100 variants described in databases. SERPINA1 encodes the alpha-1 antitrypsin (AAT) protein, and severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases. In...
LA  - en
PB  - American Thoracic Society
KW  - SERPINA1 novel variants
KW  - alpha-1 antitrypsin deficiency
KW  - alpha-1 antitrypsin polymers
KW  - elastase
KW  - Adult
KW  - Aged
KW  - Female
KW  - Gene Frequency
KW  - HEK293 Cells
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutant Proteins
KW  - Mutation, Missense
KW  - Protein Stability
KW  - Proteolysis
KW  - alpha 1-Antitrypsin
KW  - alpha 1-Antitrypsin Deficiency
TI  - Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
TY  - research article
VL  - 58
ER  -