Associated Papers
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).
Fayette MA et al.
Molecular Genetics and Metabolism, 2023
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
Lequeue S et al.
Scientific Reports, 2022
Alkaptonuria in Russia.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2022
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
Usher JL et al.
Jimd Reports, 2015
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
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