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Gene diagnostics of achondroplasia

Average price: ≈150.7€
It is treated in 169 clinics
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Gene diagnostics of achondroplasia

Description

 Генодиагностика ахондроплазии направлена на выявление молекулярных механизмов заболевания. Ахондроплазия связана с мутациями в гене FGFR3, который кодирует белок FGFR3 (рецептор фактора роста фибробластов типа 3), функция которого заключается в поддержке роста и развития костей. Дефекты белка FGFR3 приводят к нарушению костеобразования скелета, низкому росту.
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