M76231[Secondary Source ID] - Search Results

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Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Bonafé L, et al. Am J Hum Genet. 2001 Aug;69(2):269-77. doi: 10.1086/321970. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443547 Free PMC article.

Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis.

Ichinose H, Katoh S, Sueoka T, Titani K, Fujita K, Nagatsu T. Ichinose H, et al. Biochem Biophys Res Commun. 1991 Aug 30;179(1):183-9. doi: 10.1016/0006-291x(91)91352-d. Biochem Biophys Res Commun. 1991. PMID: 1883349

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