Associated Papers
Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.
Nekrasov A et al.
International Journal of Molecular Sciences, 2025
41226673 (PubMed )
Supplement: ijms-26-10639-s001.zip › Supplementary › Supplementary_S1__Primers_table_.xlsx › ____1
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
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
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002
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