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Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states

BACKGROUND: Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is potentially associated with a high degree of liver and/or lung disease. Apart from the most frequent deficiency alleles, Pi S and Pi Z, some A1AT alleles of clinical significance may be easily misdiagnosed. This is typically the case of th...

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Detalles Bibliográficos
Autores principales:	Joly, Philippe, Guillaud, Olivier, Hervieu, Valérie, Francina, Alain, Mornex, Jean-François, Chapuis-Cellier, Colette
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596512/ https://www.ncbi.nlm.nih.gov/pubmed/26446624 http://dx.doi.org/10.1186/s13023-015-0350-6

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