The molecular basis of alkaptonuria
José M. Fernández‐Cañón, Begoña Granadino, Daniel Beltrán-Valero de Bernabé, Mónica Renedo, Elena Fernández‐Ruiz, Miguel Á. Peñalva, Santiago Rodrı́guez de Córdoba
Abstract
José M. Fernández‐Cañón, Begoña Granadino, Daniel Beltrán-Valero de Bernabé, Mónica Renedo, Elena Fernández‐Ruiz, Miguel Á. Peñalva, Santiago Rodrı́guez de Córdoba
Abstract
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Key concepts: Alkaptonuria, Homogentisic acid, Missense mutation, Ochronosis, Genetics, Biology, Mendelian inheritance, Mutation