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HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase

Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in the body. Affected individuals lack functional levels of an enzyme required to breakdown HGA. Mutations in the homogentisate 1,2-dioxygenase (HGD) gene cause AKU and they are responsible f...

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Detalles Bibliográficos
Autores principales:	Karmakar, Malancha, Cicaloni, Vittoria, Rodrigues, Carlos H.M., Spiga, Ottavia, Santucci, Annalisa, Ascher, David B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471331/ https://www.ncbi.nlm.nih.gov/pubmed/36118553 http://dx.doi.org/10.1016/j.crstbi.2022.08.001

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