Article
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
European journal of clinical investigation - 1 Jan 2013
Caridi Gianluca, Dagnino Monica, Lugani Francesca, Shalev Stavit A, Campagnoli Monica, Galliano Monica, Spiegel Ronen, Minchiotti Lorenzo
Abstract excerpt
BACKGROUND: Analbuminemia (OMIM # 103600) is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous or compound heterozygous subjects. The trait is caused by a variety of mutations within the albumin gene. DESIGN: We report here the clinical and molecular characterisation of two new cases of congenital analbuminemia diagnosed in two members of...
Topics
- Child
- Chromosome Disorders
- DNA Mutational Analysis
- Heteroduplex Analysis
- Humans
- Israel
- Male
- Middle Aged
- Mutation
- Polymorphism, Single-Stranded Conformational
- Serum Albumin