Associated Papers
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
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
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
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M et al.
European Journal of Human Genetics : Ejhg, 2016
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
R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
Abdulrazzaq YM et al.
Annals of Human Genetics, 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
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Uyguner O et al.
Journal of Inherited Metabolic Disease, 2003
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002
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