TY  - GEN
AU  - Matamala, Nerea
AU  - Varela Martinez, Maria del Carmen
AU  - Lara, Beatriz
AU  - Perez, Laura
AU  - Vazquez-Dominguez, Irene
AU  - Jimenez, Azucena
AU  - Barquín, Miguel
AU  - Ferrarotti, Ilaria
AU  - Blanco, Ignacio
AU  - Janciauskiene, Sabina
AU  - Martinez-Delgado, Beatriz
PY  - 2015
DO  - 10.1186/s12967-015-0585-y
SN  - 1479-5876
UR  - http://hdl.handle.net/20.500.12105/9535
AB  - BACKGROUND: SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver...
LA  - eng
PB  - BioMed Central (BMC)
KW  - Alleles
KW  - Alternative Splicing
KW  - Humans
KW  - Leukocytes
KW  - Mutation
KW  - Organ Specificity
KW  - Protein Isoforms
KW  - RNA, Messenger
KW  - Real-Time Polymerase Chain Reaction
KW  - Transcription, Genetic
KW  - alpha 1-Antitrypsin
KW  - alpha 1-Antitrypsin Deficiency
TI  - Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency
TY  - research article
ER  -