Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
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Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
Wassenberg T et al.
Journal of Inherited Metabolic Disease, 2021
Dopamine beta-hydroxylase and its genetic variants in human health and disease.
Gonzalez-Lopez E et al.
Journal of Neurochemistry, 2020
Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship.
Punchaichira TJ et al.
Neurogenetics, 2017
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia.
Bartoletti-Stella A et al.
Journal of Neurology, 2015
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