Edwin Naylor to Mutation, Missense
This is a "connection" page, showing publications Edwin Naylor has written about Mutation, Missense.
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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. Am J Hum Genet. 2001 Jun; 68(6):1408-18.
Score: 0.043
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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J Inherit Metab Dis. 2009 Feb; 32(1):10-21.
Score: 0.018