Associated Papers
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
Molecular cloning of the HGD gene and association of SNPs with meat quality traits in Chinese red cattle.
Zhou G et al.
Molecular Biology Reports, 2010
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
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
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
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