title: A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis.
abstract: Heteroduplex analysis was used to search for small mutations in a sample of 40 Italian DMD/BMB patients in whom large rearrangements were not found. A novel nonsense mutation in exon 17 of the dystrophin gene, consisting of a C to T transition, is described.
authors.affiliation: IRCCS H S. Raffaele, Department of Laboratory Medicine, Milano, Italy.
authors.forename: A M
authors.initials: AM
authors.lastname: Barbieri
authors.forename: N
authors.initials: N
authors.lastname: Soriani
authors.forename: G M
authors.initials: GM
authors.lastname: Tubiello
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: P
authors.initials: P
authors.lastname: Carrera
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007558:Italy; D009136:Muscular Dystrophies / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis* / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D018389:Codon, Nonsense; D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes