Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening |
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| Authors: | Funghini S Donati M A Pasquini E Gasperini S Ciani F Morrone A Zammarchi E |
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| Institution: | (1) Metabolic and Neuromuscular Unit, Department of Paediatrics, University of Florence, Meyer Childrens Hospital, Via L. Giordano 13, Florence, Italy |
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| 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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