Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation

Autor: Buyse, Inge M., McCarthy, Sarah E., Lurix, Paul, Pace, Robert P., Vo, David, Bartlett, George A., Schmitt, Eric S., Ward, Patricia A., Oermann, Christopher, Eng, Christine M., Roa, Benjamin B.
Zdroj: In Genetics in Medicine September-October 2004 6(5):426-430
Databáze: ScienceDirect