Abstract
Summary: Mutation analysis performed on two Italian patients with α-mannosidosis allowed the identification of two new mutations, IVS20−2A>G and 322–323insA. The patients were both homozygous for these mutations. The first mutation causes skipping of exon 21, whereas the second causes a frameshift introducing a stop codon at position 160 of the amino acid sequence.
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Beccari, T., Bibi, L., Ricci, R. et al. Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis. J Inherit Metab Dis 26, 819–820 (2003). https://doi.org/10.1023/B:BOLI.0000010006.87571.48
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DOI: https://doi.org/10.1023/B:BOLI.0000010006.87571.48