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

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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Bibliographic Details
Main Authors: Malancha Karmakar, Vittoria Cicaloni, Carlos H.M. Rodrigues, Ottavia Spiga, Annalisa Santucci, David B. Ascher
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:Current Research in Structural Biology
Subjects:
Alkaptonuria
Structural bioinformatics
Machine learning
Precision medicine
Rare genetic disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2665928X22000241

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http://www.sciencedirect.com/science/article/pii/S2665928X22000241

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