Article
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
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
Abstract excerpt
PURPOSE: We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was associated with I148T. METHODS: This assay utilizes an integrated matrix-assisted laser desorption ion...
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