Associated Papers
Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.
Nekrasov A et al.
International Journal of Molecular Sciences, 2025
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB et al.
European Journal of Human Genetics : Ejhg, 2019
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M et al.
European Journal of Human Genetics : Ejhg, 2016
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