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Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Pain. 2018 Jun;159(6):1012-1024. doi: 10.1097/j.pain.0000000000001175.
Pain. 2018.
PMID: 29470312
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Møller LB, Rea G, Yasmeen S, Skjørringe T, Thorborg SS, Morrison PJ, Donnelly DE.
Møller LB, et al. Among authors: thorborg ss.
Mol Genet Metab. 2013 Dec;110(4):490-2. doi: 10.1016/j.ymgme.2013.09.012. Epub 2013 Sep 24.
Mol Genet Metab. 2013.
PMID: 24100245
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