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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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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2001
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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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