A new PKU mutation associated with haplotype 12.
Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid, Cantoblanco, Spain.
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Desviat
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Pérez
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Ugarte
D000595:Amino Acid Sequence; D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12; D005091:Exons; D005260:Female; D006239:Haplotypes; D006801:Humans; D007930:Leucine; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011392:Proline
D009838:Oligodeoxyribonucleotides; D011392:Proline; D010651:Phenylalanine Hydroxylase; D007930:Leucine