A NOVEL INSERTIONAL MUTATION OF A SINGLE-BASE IN EXON-12 OF THE DYSTROPHIN GENE

Authors
LASA A GALLANO P COLOMER J BAIGET M
Citation
A. Lasa et al., A NOVEL INSERTIONAL MUTATION OF A SINGLE-BASE IN EXON-12 OF THE DYSTROPHIN GENE, Clinical genetics, 48(3), 1995, pp. 128-130
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
48
Issue
3
Year of publication
1995
Pages
128 - 130
Database
ISI
SICI code
0009-9163(1995)48:3<128:ANIMOA>2.0.ZU;2-F
Abstract
A new point mutation in exon 12 of the dystrophin gene was identified in a DMD patient using multiple SSCP analysis, which allows the simult aneous study of several exons. The mutation is an A insertion at posit ion 1580 of the cDNA sequence, leading to a stop codon in the translat ional reading frame. This mutation was npt observed in a sample of 70 DMD patients.