title: Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
abstract: In this study we have carried out a mutational screening of exons 62-79 of the dystrophin gene by SSCP in 38 Italian patients with DMD/BMD and found two novel mutations at exon 70, in 2 mentally retarded DMD patients.
authors.affiliation: Istituto di Clinica E Biologia dell'Eta' Evolutuva, Universitá degli studi di Cagliari.
authors.forename: M
authors.initials: M
authors.lastname: Cau
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: D
authors.initials: D
authors.lastname: Loi
authors.forename: A
authors.initials: A
authors.lastname: Puddu
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: A
authors.initials: A
authors.lastname: Mateddu
authors.forename: M A
authors.initials: MA
authors.lastname: Melis
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007558:Italy; D009154:Mutation / Q000235:genetics*; D010455:Peptides / Q000235:genetics*
chemical_list: D016189:Dystrophin; D010455:Peptides