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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis
1Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, Universitá degli Studi di Perugia, Via del Giochetto, 06126 Perugia, Italy. tbeccari@unipg.it
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.
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