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Studies on the genotype-phenotype relation in the hph-1 mouse mutant deficient in guanosine triphosphate (GTP) cyclohydrolase I activity.

Brain & development - 1 Sept 2000

Maeda T, Haeno S, Oda K, Mori D, Ichinose H, Nagatsu T, Suzuki T

Abstract excerpt

The guanosine triphosphate (GTP) cyclohydrolase I (GTP-CHI) catalyses the rate-limiting step in the de novo synthesis of tetrahydrobiopterin, a cofactor of three aromatic amino acid hydroxylases, one of which is phenylalanine hydroxylase. The hph-1 mouse mutant deficient in GTP-CHI activity exhibits hyperphenylalaninemia which peculiarly disappears at 3 weeks of age, thus corresponding to the increase in liver...

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PMID: 10984661
DOI: 10.1016/s0387-7604(00)00133-9

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