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

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 analy...

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Detalles Bibliográficos
Autores principales: Hozyasz, Kamil K., Mostowska, Adrianna, Wójcicki, Piotr, Lasota, Agnieszka, Zadurska, Małgorzata, Dunin-Wilczyńska, Izabela, Jagodziński, Paweł P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703629/
https://www.ncbi.nlm.nih.gov/pubmed/26215833
http://dx.doi.org/10.1007/s12035-015-9342-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703629/
https://www.ncbi.nlm.nih.gov/pubmed/26215833
http://dx.doi.org/10.1007/s12035-015-9342-8

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