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Description of 22 new alpha-1 antitrypsin genetic variants

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 typically comp...

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Detalles Bibliográficos
Autores principales:	Renoux, Céline, Odou, Marie-Françoise, Tosato, Guillaume, Teoli, Jordan, Abbou, Norman, Lombard, Christine, Zerimech, Farid, Porchet, Nicole, Chapuis Cellier, Colette, Balduyck, Malika, Joly, Philippe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142351/ https://www.ncbi.nlm.nih.gov/pubmed/30223862 http://dx.doi.org/10.1186/s13023-018-0897-0

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