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Genodiagnostics of Walker-Warburg syndrome

Average price: ≈170.3€
It is treated in 151 clinic
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Genodiagnostics of Walker-Warburg syndrome

Description

 Генодиагностика синдрома Уокера-Варбурга включает молекулярно-генетический анализ генов, кодирующих белки дистрогликанового комплекса. Их мутации приводят к развитию мышечной дистрофии и окулоцеребральной дисплазии. Большинство случаев синдрома Уокера-Варбурга вызвано дефектами генов POMT1, POMT2, FKRP, меньшее количество - мутациями FKTN, LARGE.
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