Associated Papers
Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.
Nekrasov A et al.
International Journal of Molecular Sciences, 2025
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
Lequeue S et al.
Scientific Reports, 2022
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis.
Yang W et al.
Frontiers in Microbiology, 2018
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
Usher JL et al.
Jimd Reports, 2015
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Zatkova A et al.
Jimd Reports, 2012
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
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