Article
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
The Indian journal of medical research - 1 Nov 2024
Abraham Suneetha Susan Cleave, Barney Anitha, Mohan Sony, Joy Praisy, Ganesan Paramasivam, Das Sweta, Cherupanakkal Cleetus, Jose Arun, A Rekha, Zatkova Andrea, Danda Sumita
Abstract excerpt
Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been...
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