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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
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. AKU is due to mutations in the homogentisa...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2830005/ https://ncbi.nlm.nih.gov/pubmed/19862842 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21120 |
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