Výsledky vyhledávání - "Mikhail Maksimovich Garbuz"

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

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