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J Inherit Metab Dis. 2002 Aug;25(4):328-30.

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Author information

1
Department of Pediatrics, University of Florence, Italy.

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.

PMID:
12227467
[Indexed for MEDLINE]

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