Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency: Possible Regulation of Gene Expression in a Patient with the Homozygous L48S Mutation

Author： Blau N.   Trefz F.K.  

Publisher： Elsevier

ISSN： 1096-7192

Source： Molecular Genetics and Metabolism, Vol.75, Iss.2, 2002-02, pp. : 186-187

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