A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis.

doi:10.1007/BF00210420

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Article

A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis.

Human genetics - 1 Sept 1995

Barbieri A M, Soriani N, Tubiello G M, Ferrari M, Carrera P

Abstract excerpt

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.

Topics

Codon, Nonsense
Dystrophin
Exons
Humans
Italy
Muscular Dystrophies
Nucleic Acid Heteroduplexes
Phenotype
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

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