Article
A novel splicing mutation causes an undescribed type of analbuminemia.
Biochimica et biophysica acta - 2 Jan 2002
Campagnoli Monica, Rossi Antonio, Palmqvist Lars, Flisberg Anders, Niklasson Aimon, Minchotti Lorenzo, Galliano Monica
Abstract excerpt
Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous subjects. In this report we describe a new molecular defect that caused the analbuminemic trait in a newborn of Iraqi origin. When the parents' DNA was analyzed, both subjects were found to be heterozygous for the same mutation found in the infant. All the 14 exon and...
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