Article
Analbuminemia produced by a novel splicing mutation.
Clinical chemistry - 1 Aug 2007
Dolcini Lorenzo, Caridi Gianluca, Dagnino Monica, Sala Alberto, Gökçe Selim, Sökücü Semra, Campagnoli Monica, Galliano Monica, Minchiotti Lorenzo
Abstract excerpt
Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating human serum albumin in homozygous or compound heterozygous individuals. It is an allelic heterogeneous defect, caused by a variety of mutations within the albumin gene. The analbuminemic condition was diagnosed in a Turkish female infant on the basis of low albumin concentration ( approximately 9.0...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.