Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QO(Madrid)

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 null (QO) alleles. Null-AAT alleles represent the en...

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Detalles Bibliográficos
Autores principales: Lara, Beatriz, Martínez, Maria Teresa, Blanco, Ignacio, Hernández-Moro, Cristina, Velasco, Eladio A, Ferrarotti, Ilaria, Rodriguez-Frias, Francisco, Perez, Laura, Vazquez, Irene, Alonso, Javier, Posada, Manuel, Martínez-Delgado, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194419/
https://www.ncbi.nlm.nih.gov/pubmed/25287719
http://dx.doi.org/10.1186/s12931-014-0125-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194419/
https://www.ncbi.nlm.nih.gov/pubmed/25287719
http://dx.doi.org/10.1186/s12931-014-0125-y

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