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Genodiagnostics of myotonic dystrophy

Average price: ≈64.2€
It is treated in 275 clinics
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Genodiagnostics of myotonic dystrophy

Description

 Генодиагностика миотонической дистрофии направлена на выявление молекулярно-генетической основы заболевания и определение его типа. Причина наследственного синдрома первого типа - увеличение количества тринуклеотидных повторов сTG в гене миотониновой протеинкиназы (DMPK). Миотоническая дистрофия 2 типа развивается в результате экспансии тетрануклеотидного повтора сCTG в гене белка 9 цинкового пальца - сNBP (ZNF9).
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