TY  - GEN
AU  - Lara, Beatriz
AU  - Varela Martinez, Maria del Carmen
AU  - Blanco, Ignacio
AU  - Hernández-Moro, Cristina
AU  - Velasco, Eladio A
AU  - Ferrarotti, Ilaria
AU  - Rodriguez-Frias, Francisco
AU  - Perez, Laura
AU  - Vazquez-Dominguez, Irene
AU  - Alonso, Javier
AU  - Posada De la Paz, Manuel
AU  - Martinez-Delgado, Beatriz
PY  - 2014
DO  - 10.1186/s12931-014-0125-y
UR  - http://hdl.handle.net/20.500.12105/4827
AB  - Background: Severe Alpha-1 Antitrypsin (AAT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene, which predisposes to lung emphysema and liver disease. It is usually related to PI*Z alleles, and less frequent to rare and...
LA  - eng
PB  - BioMed Central (BMC)
KW  - Alpha-1 antitrypsin
KW  - Allelic variants
KW  - Null alleles
KW  - QO alleles, Splicing, Minigenes
TI  - Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid
TY  - research article
ER  -