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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Detalles Bibliográficos
Autores principales: Dagnino, Monica, Caridi, Gianluca, Haenni, Ueli, Duss, Adrian, Aregger, Fabienne, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2011
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233406/
https://www.ncbi.nlm.nih.gov/pubmed/22174600
http://dx.doi.org/10.3390/ijms12117314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233406/
https://www.ncbi.nlm.nih.gov/pubmed/22174600
http://dx.doi.org/10.3390/ijms12117314

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