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Article

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.

Brain & development - 1 Aug 2018

Fernández-Lainez Cynthia, Ibarra-González Isabel, Alcántara-Ortigoza Miguel Ángel, Fernández-Hernández Liliana, Enríquez-Flores Sergio, González-Del Ángel Ariadna, Blau Nenad, Thöny Beat, Guillén-López Sara, Belmont-Martínez Leticia, Ruiz-García Matilde, Vela-Amieva Marcela

Abstract excerpt

BACKGROUND: Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase (PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (PTPSD) is characterized by hyperphenylalaninemia (HPA) and deficit in central monoamine neurotransmitters. We describe the clinical and mutational spectrum of five patients with PTPSD, from four unrelated Mexican families. All...

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PMID: 29685341
DOI: 10.1016/j.braindev.2018.03.014

Genes

PTS

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