Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase
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DOI: 10.1080/07391102.2020.1736158
Abstract: Abstract Alkaptonuria (AKU) is an autosomal recessive disorder, which is caused by a site-specific mutation(s) and thus, impaired the function of Homogentisate-1, 2-dioxygenase (HGD), an essential enzyme for the catabolism of phenylalanine and tyrosine. Among… read more here.
Keywords: molecular characterization; mutations human; disease; characterization lethal ... See more keywords