Description of 22 new alpha-1 antitrypsin genetic variants

Description of 22 new alpha-1 antitrypsin genetic variants

Abstract Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typic...

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Bibliographic Details
Main Authors: Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Alpha-1 antitrypsin deficiency
SERPINA1 genotyping
Null alleles
Online Access:http://link.springer.com/article/10.1186/s13023-018-0897-0

Internet

http://link.springer.com/article/10.1186/s13023-018-0897-0

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