Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

<p>Abstract</p> <p>Background</p> <p>Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causative mutations. These mut...

Full description

Bibliographic Details
Main Authors: Darras Basil T, O'Brien Kristine F, den Dunnen Johan, Bennett Richard R, Kunkel Louis M
Format: Article
Language:English
Published: BMC 2001-10-01
Series:BMC Genetics
Online Access:http://www.biomedcentral.com/1471-2156/2/17