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Gene diagnostics of Friedreich's ataxia (FXN gene)

Average price: ≈90.9€
It is treated in 222 clinics
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Gene diagnostics of Friedreich's ataxia (FXN gene)

Description

 Генодиагностика атаксии Фридрейха позволяет выявить гетерозиготных носителей мутантного гена или пациентов с манифестной формой заболевания. Ген спиноцеребеллярной дегенерации Фридрейха, FXN, кодирует белок под названием фратаксин, который регулирует транспорт железа в митохондриях и биосинтез гема. Расположен на длинном плече хромосомы 9 в локусе 9q13-q21.1. При секвенировании FXN могут быть обнаружены точечные мутации или увеличение количества повторов GAA.
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