Article
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Klinicheskaia laboratornaia diagnostika - 17 Apr 2022
Sivtsev A A, Zhalsanova I Zh, Postrigan A E, Fonova E A, Vasilyeva O Yu, Zarubin A A, Minaicheva L I, Agafonova A A, Petrova V V, Ravzhaeva E G, Salyukova O A, Skryabin N A
Abstract excerpt
The study aimed to search for mutations in the ATP7B gene using massively parallel sequencing in patients with Wilson disease in the Tomsk region. For 42 patients with suspected Wilson's disease (aged from 1 to 33 years) was performed molecular genetic analysis. Enrichment of the interest genome regions was carried out by the long-range PCR. DNA libraries with ligated adapters were constructed with Nextera DNA...
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