A NONSENSE MUTATION (GLN-673-TERM) IN EXON-17 OF THE HUMAN DYSTROPHINGENE DETECTED BY HETERODUPLEX ANALYSIS

Authors
BARBIERI AM SORIANI N TUBIELLO GM FERRARI M CARRERA P
Citation
Am. Barbieri et al., A NONSENSE MUTATION (GLN-673-TERM) IN EXON-17 OF THE HUMAN DYSTROPHINGENE DETECTED BY HETERODUPLEX ANALYSIS, Human genetics, 96(3), 1995, pp. 343-344
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
96
Issue
3
Year of publication
1995
Pages
343 - 344
Database
ISI
SICI code
0340-6717(1995)96:3<343:ANM(IE>2.0.ZU;2-C
Abstract
Heteroduplex analysis was used to search for small mutations in a samp le of 40 Italian DMD/BMB patients in whom large rearrangements were no t found. A novel nonsense mutation in exon 17 of the dystrophin gene, consisting of a C to T transition, is described.