Published in Respiratory Therapeutics Week, December 13th, 2004
The publication in the September/October 2004 issue of Genetics In Medicine also reports the discovery of a new disease causing polymorphism. The extended CFTR assay panel developed for use on Sequenom's MassARRAY system covers 51 mutations. Most importantly, results from the Baylor DNA Laboratory established the clinical significance of a rare CF mutation and contributed to recently revised CF testing recommendations by the American College of Medical Genetics.
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