Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
2. [49] Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride
3. An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2
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3. Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria;Human Mutation;2013-05-01
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