Article
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.
Molecular genetics and metabolism - 1 Jun 1999
Mallolas J, Milà M, Lambruschini N, Cambra F J, Campistol J, Vilaseca M A
Abstract excerpt
The molecular detection of heterozygotes for hyperphenylalaninemia is difficult due to the large number of mutations in the PAH gene. For this reason, various indexes that measure plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr), as an expression of Phe metabolizing capacity, have been used for the detection of carriers for mutations in the PAH gene. In this study, we contrast the biochemical and...
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