Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU
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DOI: 10.1038/s41431-019-0354-0
Abstract: Alkaptonuria (AKU) is a rare metabolic disorder caused by a deficient enzyme in the tyrosine degradation pathway, homogentisate 1,2-dioxygenase (HGD). In 172 AKU patients from 39 countries, we identified 28 novel variants of the HGD… read more here.
Keywords: genotype phenotype; hgd; homogentisate dioxygenase; dioxygenase hgd ... See more keywords