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- W2413332012 abstract "Mutation analysis performed on two Italian patients with alpha-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." @default.
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- W2413332012 date "2003-12-01" @default.
- W2413332012 modified "2023-09-28" @default.
- W2413332012 title "Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis" @default.
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- W2413332012 doi "https://doi.org/10.1023/b:boli.0000010006.87571.48" @default.
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