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Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations
HUMAN MUTATION, no. 5 (2004): 388.0-399
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摘要
A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor (tetrahydrobiopterin, BH4) supplementation has been associated with phenylketonuria (PKU) mutations. The underlying molecular mechanism of this responsiveness is as yet unknown and requires a detailed in vitro expression analysis of the associated mutations....更多
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