Associated Papers
Alkaptonuria in Russia.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2022
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
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Al-sbou M
Rheumatology International, 2012
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
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
Rapid detection methods for five HGO gene mutations causing alkaptonuria.
Zatkova A et al.
Clinical Genetics, 2003
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
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge E et al.
Journal of Medical Genetics, 2002
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
Srsen S et al.
Molecular Genetics and Metabolism, 2002
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Zatková A et al.
American Journal of Human Genetics, 2000
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
Journal of Medical Genetics, 1999
Allelic heterogeneity of alkaptonuria in Central Europe.
Müller CR et al.
European Journal of Human Genetics : Ejhg, 1999
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1999
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1998