Article
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 - 25 Oct 2022
Garbuz Mikhail Maksimovich, Ovchinnikova Anna Alexandrovna, Kumeiko Vadim Vladimirovich
Abstract excerpt
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 disability, destructively affecting the quality of life of patients. Currently, none of the available laboratory tests can be considered universal and specific for the...
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