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Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseBiochemical GeneticsMolecular BiologySevere PhenylketonuriaMolecular GeneticsMedicinePhenylalanine Hydroxylase GeneNovel Missense Mutation