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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach versus Sanger sequencing in 84 patients wi...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Johansen, Christopher T., Dubé, Joseph B., Loyzer, Melissa N., MacDonald, Austin, Carter, David E., McIntyre, Adam D., Cao, Henian, Wang, Jian, Robinson, John F., Hegele, Robert A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society for Biochemistry and Molecular Biology 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3966710/
https://ncbi.nlm.nih.gov/pubmed/24503134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.D045963
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