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

BACKGROUND: 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 mutations are detected by an existing set of multiplexed p...

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Detalhes bibliográficos

Publicado no:	BMC Genet
Principais autores:	Bennett, Richard R, den Dunnen, Johan, O'Brien, Kristine F, Darras, Basil T, Kunkel, Louis M
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2001
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC59832/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11710958/ https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2156-2-17
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