Article
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.
Biochemia medica - 1 Jan 2014
Caridi Gianluca, Dagnino Monica, Erdeve Omer, Di Duca Marco, Yildiz Duran, Alan Serdar, Atasay Begum, Arsan Saadet, Campagnoli Monica, Galliano Monica, Minchiotti Lorenzo
Abstract excerpt
INTRODUCTION: Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a...
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