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A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

Mendelian DisorderPrevalent Missense MutationGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyHuman PolymorphismPathologyMolecular GeneticsGenetic VariationMedical GeneticsDisease Gene IdentificationMedicineClinical Genetics