Analysis of the Phenotype Differences in Siblings with Alkaptonuria
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DOI: 10.3390/metabo12100990
Abstract: Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding for homogentisate 1,2-dioxygenase (HGD). To date, 251 different variants of this gene have been reported. The metabolic disorder in AKU… read more here.
Keywords: siblings alkaptonuria; analysis phenotype; phenotype differences; hga ... See more keywords