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Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L)...

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Detalhes bibliográficos
Main Authors: Dagnino, Monica, Caridi, Gianluca, Haenni, Ueli, Duss, Adrian, Aregger, Fabienne, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Diversity Preservation International (MDPI) 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3233406/
https://ncbi.nlm.nih.gov/pubmed/22174600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms12117314
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