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

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

Abstract 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...

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Bibliographic Details
Main Authors: Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack, Joannah Kim, Christopher L. Sanders
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
Alpha 1 Antitrypsin Deficiency
SERPINA1
Rare variants
Protein modeling
Online Access:http://link.springer.com/article/10.1186/s12881-019-0852-5

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