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Gene diagnostics of pseudoachondroplasia

Average price: ≈102.3€
It is treated in 149 clinics
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Gene diagnostics of pseudoachondroplasia

Description

 Генодиагностика псевдоахондроплазии включает полное секвенирование или изучение наиболее частых мутаций гена сOMP, расположенных в локусе 19p13.11. Ген отвечает за кодирование олигомерного матричного белка, который участвует в развитии хрящевой ткани. Дефекты сOMP вызывают развитие псевдоахондроплазии или множественной эпифизарной дисплазии. При псевдоахондроплазии чаще всего отмечается увеличение или уменьшение GAC-повторов (из расчета 5).
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