Associated Papers
Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.
Nekrasov A et al.
International Journal of Molecular Sciences, 2025
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
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ladjouze-Rezig A et al.
Joint Bone Spine, 2006
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