Associated Papers
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.
Abdelkhalek ZS et al.
Scientific Reports, 2023
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance.
Pires DE et al.
Scientific Reports, 2016
27384129 (PubMed )
Supplement: srep29575-s1.pdf
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
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
Gucev ZS et al.
Prilozi, 2011
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
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