Article
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
American journal of medical genetics - 22 Jul 2002
Morrone A, Malvagia S, Donati M A, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E
Abstract excerpt
Holocarboxylase synthetase (HLCS) deficiency (HLCSD) is a rare autosomal recessive disorder of biotin metabolism. HLCS catalyzes the biotinylation of the four human biotin-dependent carboxylases. Using the newly available human genomic sequence, we report the map of HLCS genomic structure and the predicted exon/intron boundaries. Moreover, the molecular studies of four patients (two Italians, one Iranian, and one...
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