Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E.
Morrone A, et al.
Am J Med Genet. 2002 Jul 22;111(1):10-8. doi: 10.1002/ajmg.10532.
Am J Med Genet. 2002.
PMID: 12124727
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 Australian) affected by HLCS deficiency are here rep …
Using the newly available human genomic sequence, we report the map of HLCS genomic structure and the predicted exon/intron boundarie …