Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (Q28142580)

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scientific article (publication date: 1999)
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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
scientific article (publication date: 1999)

    Statements

    Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (English)
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    T Scherer-Oppliger
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    A Matasovic
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    S Laufs
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    H L Levy
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    E J Quackenbush
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    N Blau
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    B Thöny
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    1999
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    13
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    4
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    286-9
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