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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
Main Authors: Bennett, Richard R, den Dunnen, Johan, O'Brien, Kristine F, Darras, Basil T, Kunkel, Louis M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC59832/
https://ncbi.nlm.nih.gov/pubmed/11710958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-2-17
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