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Genodiagnostics of Andermann syndrome (SLC12A6 gene)

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Genodiagnostics of Andermann syndrome (SLC12A6 gene)

Description

 Генодиагностика синдрома Андермана позволяет выявить наследственное заболевание, вызванное мутациями в гене SLC12A6 в локусе 15q13-q15. Кодируемый им белок находится на клеточной мембране и участвует в переносе ионов калия. Наряду с дефектами генов развивается синдром Андермана, который характеризуется агенезией мозолистого тела, олигофренией и сенсомоторной нейропатией.
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