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Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Author:

Luisa Bonafé,Beat Thöny,Johann M. Penzien,Barbara Czarnecki,Nenad Blau

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

August 2001

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