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pubmed-article:1288453pubmed:abstractTextSeveral mutations in the human phenylalanine hydroxylase (PAH) gene have been described and it may be interesting to tentatively correlate mutant genotypes and clinical phenotypes of phenylketonuria (PKU).lld:pubmed
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pubmed-article:1288453pubmed:articleTitle[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].lld:pubmed
pubmed-article:1288453pubmed:affiliationUnité de Recherches sur les Handicaps Génétiques de l'Enfant (INSERM U12), Hôpital des Enfants-Malades, Paris.lld:pubmed
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