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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Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2002
Konular:
Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC379168/
https://ncbi.nlm.nih.gov/pubmed/12111668
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