Article
Structural and functional analysis of mutations in alkaptonuria.
Human molecular genetics - 22 Sept 2000
Rodríguez J M, Timm D E, Titus G P, Beltrán-Valero De Bernabé D, Criado O, Mueller H A, Rodríguez De Córdoba S, Peñalva M A
Abstract excerpt
Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first human disease to be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century. AKU results from impaired function of homogentisate dioxygenase (HGO), an enzyme required for the catabolism of phenylalanine and tyrosine. With the novel 7 AKU and 22 fungal mutations reported here, a total of 84 mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.