A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype

Alpha-1-antitrypsin (A1AT) deficiency is a genetic disease characterized by low levels and/or function of A1AT protein. A1AT deficiency can result in the development of COPD, liver disease, and certain skin conditions. The disease can be diagnosed by demonstrating a low level of A1AT protein and gen...

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Detalles Bibliográficos
Autores principales: Ringenbach, Michael R, Banta, Erin, Snyder, Melissa R, Craig, Timothy J, Ishmael, Faoud T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229436/
https://www.ncbi.nlm.nih.gov/pubmed/22078084
http://dx.doi.org/10.1186/1710-1492-7-18

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