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Gene diagnostics of Emery-Dreyfus muscular dystrophy

Average price: ≈288.1€
It is treated in 173 clinics
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Gene diagnostics of Emery-Dreyfus muscular dystrophy

Description

 Генодиагностика мышечной дистрофии Эмери-Дрейфуса включает выявление спектра мутаций в генах, связанных с данной патологией. В настоящее время описано 7 генетических вариантов синдрома с разными типами наследования. Большинство случаев мышечной дистрофии Эмери-Дрейфуса связано с мутациями в генах EMD (ген Emerin), LMNA (ген ламинов A и с) и FHL1, которые кодируют одноименный белок.
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