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The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive
Linda O'Reilly, Peter Bross, Thomas J. Corydon, Simon E. Olpin, Jakob Hansen, John M. Kenney, Shawn E. McCandless, Dianne M. Frazier, Vibeke Winter, Niels Gregersen, Paul C Engel, Brage Storstein AndrVolume:
271
Year:
2004
Language:
english
Pages:
11
DOI:
10.1111/j.1432-1033.2004.04343.x
File:
PDF, 656 KB
english, 2004