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Lasa, A; Gallano, P; Colomer, J; Baiget, M
Clinical genetics, September 1995, Letnik: 48, Številka: 3Journal Article
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.
