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
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
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
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
Select a paper to view details