Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants
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DOI: 10.1002/mgg3.70156
Abstract: Alkaptonuria (AKU) (MIM number 203500) or homogentisic acid oxidase deficiency is a metabolic autosomal recessive disorder caused by mutations in the homogentisate 1, 2‐dioxygenase (HGD) (MIM number 607474) gene. The HGD is located on chromosome… read more here.
Keywords: molecular analysis; analysis hgd; hgd; gene families ... See more keywords