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Article

Alkaptonuria in Russia: mutational spectrum and novel variants.

European journal of medical genetics - 1 Apr 2021

Bychkov Igor, Kamenets Elena, Kurkina Marina, Rychkov Georgiy, Ilyushkina Alexandra, Filatova Aleksandra, Guseva Darya, Baydakova Galina, Nekrasov Andrey, Cheblokov Aleksandr, Skoblov Mikhail, Zakharova Ekaterina

Abstract excerpt

Alkaptonuria is a rare genetic disease caused by mutations in HGD gene. Here we report the results of genetic and biochemical analysis of 49 Russian patients with alkaptonuria. One of the common variants c.481G > A; p.(Gly161Arg) comprising 72.4% of identified alleles was found in 45 of 49 patients in our cohort, which is probably the highest frequency of this variant worldwide. 9 novel variants were found: 6...

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PMID: 33621656
DOI: 10.1016/j.ejmg.2021.104165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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