Associated Papers
Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review.
Qiu X et al.
Molecular Genetics and Metabolism Reports, 2025
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
First report of HGD mutations in a Chinese with alkaptonuria.
Yang YJ et al.
Gene, 2013
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