1.
J Inherit Metab Dis
; 26(8): 819-20, 2003.
Article
in English
| MEDLINE
| ID: mdl-14765545
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.