title: Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis.
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.
authors.affiliation: Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, Universitá degli Studi di Perugia, Via del Giochetto, 06126 Perugia, Italy. tbeccari@unipg.it
authors.forename: T
authors.initials: T
authors.lastname: Beccari
authors.forename: L
authors.initials: L
authors.lastname: Bibi
authors.forename: R
authors.initials: R
authors.lastname: Ricci
authors.forename: D
authors.initials: D
authors.lastname: Antuzzi
authors.forename: A
authors.initials: A
authors.lastname: Burgalossi
authors.forename: E
authors.initials: E
authors.lastname: Costanzi
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
mesh_terms: D006801:Humans; D009154:Mutation; D043323:alpha-Mannosidase / Q000235:genetics*; D008363:alpha-Mannosidosis / Q000209:etiology / Q000235:genetics*
chemical_list: D043323:alpha-Mannosidase