Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

Duplications and deletions are known to cause a number of genetic disorders, yet technical difficulties and financial considerations mean that screening for these mutations, especially duplications, is often not performed. We have adapted multiplex amplifiable probe hybridization (MAPH) for the scre...

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Autori principali: White, Stefan, Kalf, Margot, Liu, Qiang, Villerius, Michel, Engelsma, Dieuwke, Kriek, Marjolein, Vollebregt, Ellen, Bakker, Bert, van Ommen, Gert-Jan B., Breuning, Martijn H., den Dunnen, Johan T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2002
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC379168/
https://ncbi.nlm.nih.gov/pubmed/12111668
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