Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency
Brage Storstein Andresen,Steve F. Dobrowolski,Linda O'Reilly,Joseph Muenzer,Shawn E. McCandless,Dianne M. Frazier,Szabolcs Udvari,Peter Bross,Inga Knudsen,Rick Banas,Donald H. Chace,Paul Engel,Edwin W. Naylor,Niels Gregersen
The American Journal of Human Genetics
Copyright © 2001, Elsevier
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