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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Bibliográfalaš dieđut
Váldodahkkit: Malancha Karmakar, Vittoria Cicaloni, Carlos H.M. Rodrigues, Ottavia Spiga, Annalisa Santucci, David B. Ascher
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: Elsevier 2022-01-01
Ráidu:Current Research in Structural Biology
Fáttát:
Alkaptonuria
Structural bioinformatics
Machine learning
Precision medicine
Rare genetic disorder
Liŋkkat:http://www.sciencedirect.com/science/article/pii/S2665928X22000241

Interneahtta

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

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