The Suitability of Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry in a Laboratory Developed Test Using Cystic Fibrosis Carrier Screening as a Model

We designed a laboratory developed test (LDT) by using an open platform for mutation/polymorphism detection. Using a 108-member (mutation plus variant) cystic fibrosis carrier screening panel as a model, we completed the last phase of LDT validation by using matrix-assisted laser desorption/ionizati...

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Bibliografiska uppgifter
Huvudupphovsmän: Farkas, Daniel H., Miltgen, Nicholas E., Stoerker, Jay, van den Boom, Dirk, Highsmith, W. Edward, Cagasan, Lesley, McCullough, Ron, Mueller, Reinhold, Tang, Lin, Tynan, John, Tate, Courtney, Bombard, Allan
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Investigative Pathology 2010
Ämnen:
Regular Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928425/
https://ncbi.nlm.nih.gov/pubmed/20616359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.090233
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