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Gene diagnostics of Rett syndrome (MECP2 gene)

Average price: ≈153€
It is treated in 189 clinics
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Gene diagnostics of Rett syndrome (MECP2 gene)

Description

 Генодиагностика синдрома Ретта включает выявление точечных мутаций и делеций гена MECP2. Ген расположен на Х-хромосоме в локусе Xq28 и кодирует метил-связывающий белок, влияющий на развитие нервной ткани. Классический синдром Ретта характеризуется нарушением психомоторного развития и речи, судорогами и респираторными расстройствами, которые проявляются в возрасте 6-18 месяцев.
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