Article
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2008
Campagnoli Monica, Hansson Per, Dolcini Lorenzo, Caridi Gianluca, Dagnino Monica, Candiano Giovanni, Bruschi Maurizio, Palmqvist Lars, Galliano Monica, Minchiotti Lorenzo
Abstract excerpt
BACKGROUND: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. Here we report the first case of hereditary analbuminemia in the ethnic Swedish population, and we define the molecular defect that causes the analbuminemic trait. METHODS: Total DNA, extracted from peripheral blood samples from the analbuminemic proband and his parents,...
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