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Article

Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.

Molecular neurobiology - 1 Jan 2016

Hozyasz Kamil K, Mostowska Adrianna, Wójcicki Piotr, Lasota Agnieszka, Zadurska Małgorzata, Dunin-Wilczyńska Izabela, Jagodziński Paweł P

Abstract excerpt

A deficiency of GTP cyclohydrolase, encoded by the GCH1 gene, results in two neurological diseases: hyperphenylalaninaemia type HPABH4B and DOPA-responsive dystonia. Genes involved in neurotransmitter metabolism and motor systems may contribute to palatogenesis. The purpose of the study was to analyse polymorphic variants of the GCH1 gene as risk factors for non-syndromic cleft lip with or without cleft palate...

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Identifiers

PMID: 26215833
DOI: 10.1007/s12035-015-9342-8
PMCID: PMC4703629

Genes

GCH1

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