Associated Papers
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Zatkova A et al.
Metabolites, 2022
36295892 (PubMed )
Supplement: metabolites-12-00990-s001.zip › metabolites-1964473-supplementary.pdf
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Spiga O et al.
Briefings in Bioinformatics, 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
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
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
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM et al.
Human Molecular Genetics, 2000
A novel point mutation associated with alkaptonuria.
Higashino K et al.
Clinical Genetics, 1998
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