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

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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Bibliographic Details
Main Authors: Lorenzo Minchiotti, Monica Campagnoli, Monica Galliano, Fabienne Aregger, Ueli Haenni, Adrian Duss, Gianluca Caridi, Monica Dagnino
Format: Article
Language:English
Published: MDPI AG 2011-10-01
Series:International Journal of Molecular Sciences
Subjects:
human serum albumin
analbuminemia
heteroduplex analysis
single-strand conformation polymorphism
DNA sequence
Online Access:http://www.mdpi.com/1422-0067/12/11/7314/

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http://www.mdpi.com/1422-0067/12/11/7314/

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