Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

BACKGROUND: Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease. The majority of AATD cases are caused by the ‘Z’ and ‘S’ variants – single...

Descripción completa

Detalles Bibliográficos
Autores principales: Kueppers, Friedrich, Andrake, Mark D., Xu, Qifang, Dunbrack, Roland L., Kim, Joannah, Sanders, Christopher L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631921/
https://www.ncbi.nlm.nih.gov/pubmed/31307431
http://dx.doi.org/10.1186/s12881-019-0852-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631921/
https://www.ncbi.nlm.nih.gov/pubmed/31307431
http://dx.doi.org/10.1186/s12881-019-0852-5

Ejemplares similares