Abstract
Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C>T (T404I) and a single base deletion c594delC. All patients were compound heterozygous for the D444H amino acid substitution showing that this mutation is also common in Italian patients affected by partial biotinidase deficiency.
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Funghini, S., Donati, M., Pasquini, E. et al. Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. J Inherit Metab Dis 25, 328–330 (2002). https://doi.org/10.1023/A:1016522912849
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DOI: https://doi.org/10.1023/A:1016522912849