A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis.
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.
Barbieri
A M
AM
IRCCS H S. Raffaele, Department of Laboratory Medicine, Milano, Italy.
Soriani
N
N
Tubiello
G M
GM
Ferrari
M
M
Carrera
P
P
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
D018389:Codon, Nonsense; D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes