Associated Papers
Alkaptonuria in Russia.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 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
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
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria.
Magesh R et al.
Thescientificworldjournal, 2012
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
21898656 (PubMed )
Supplement: supplement_1.pdf
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
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM et al.
Human Molecular Genetics, 2000
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
Journal of Medical Genetics, 1999
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