Výsledky vyhledávání - "Vadim Vladimirovich Kumeiko"

Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population

Autor: Mikhail Maksimovich Garbuz, Anna Alexandrovna Ovchinnikova, Vadim Vladimirovich Kumeiko

Publikováno v: Genes; Volume 13; Issue 11; Pages: 1940

Background: Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism resulting from various mutations in the ATP7B gene. Despite good knowledge and successful treatment options, WD is a severe disease that leads to di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b6fd14dc6ace734d7767c396f1338e4
https://pubmed.ncbi.nlm.nih.gov/36360177

Zobrazit plný text záznamu

Akademický článek

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.

Autor: Ovchinnikova, Elena Vasilievna¹ (AUTHOR) garbuzmihail.93@gmail.com, Garbuz, Mikhail Maksimovich¹ (AUTHOR), Ovchinnikova, Anna Aleksandrovna¹ (AUTHOR), Kumeiko, Vadim Vladimirovich^1,2 (AUTHOR) vkumeiko@yandex.ru

Publikováno v: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 4, p2402. 15p.

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Correction: Garbuz et al. Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population. Genes 2022, 13 , 1940.

Autor: Garbuz, Mikhail Maksimovich, Ovchinnikova, Anna Alexandrovna, Kumeiko, Vadim Vladimirovich

Publikováno v: Genes; Aug2024, Vol. 15 Issue 8, p1070, 2p

Zobrazit plný text záznamu

Akademický článek

Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.

Autor: Garbuz, Mikhail Maksimovich, Ovchinnikova, Anna Alexandrovna, Kumeiko, Vadim Vladimirovich

Publikováno v: Genes; Nov2022, Vol. 13 Issue 11, p1940, 11p

Zobrazit plný text záznamu

Periodical

Far Eastern Federal University Researchers Further Understanding of Wilson's Disease (Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions).

Publikováno v: Genomics & Genetics Weekly; 3/15/2024, p571-571, 1p

Zobrazit plný text záznamu