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See Latest ArticlesMutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
Human Mutation, 11/02/09
Vilboux T et al. – Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves. This study provides valuable resources for molecular analysis of alkaptonuria and expands the knowledge of the molecular basis of this disease.
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