A novel insertional mutation of a single base on exon 12 of the dystrophin gene.
A new point mutation in exon 12 of the dystrophin gene was identified in a DMD patient using multiple SSCP analysis, which allows the simultaneous study of several exons. The mutation is an A insertion at position 1580 of the cDNA sequence, leading to a stop codon in the translational reading frame. This mutation was not observed in a sample of 70 DMD patients.
Lasa
A
A
Unitat de Genètica Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Gallano
P
P
Colomer
J
J
Baiget
M
M
D000225:Adenine; D001483:Base Sequence; D002648:Child; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016254:Mutagenesis, Insertional; D017354:Point Mutation; D014176:Protein Biosynthesis
D016189:Dystrophin; D000225:Adenine