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Gene diagnostics of Unferricht-Lundborg disease (CSTB gene)

Average price: ≈134.6€
It is treated in 174 clinics
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Gene diagnostics of Unferricht-Lundborg disease (CSTB gene)

Description

 Генодиагностика болезни Унферрихта-Лундборга включает выявление наиболее частых мутаций или полный анализ гена сSTB (локус 21q22.3). Ген сSTB кодирует белок цистатин в, дефицит которого приводит к прогрессирующей миоклонической эпилепсии. Наиболее распространенными генными аберрациями являются миссенс-мутации, нуклеотидные замены и бессмысленные мутации.
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