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⌂ /Medical services /Genodiagnostics of hypochondroplasia /
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Genodiagnostics of hypochondroplasia - clinics in the city «Ижевск»

Average price: ≈128.7€
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Genodiagnostics of hypochondroplasia

Description

 Генодиагностика гипохондроплазии направлена на выявление генетической причины хондродистрофии - мутации в гене FGFR3. Ген рецептора фактора роста фибробластов участвует в регуляции развития хряща. Около 50% случаев гипохондроплазии вызваны заменой аспарагина лизином в положении 540, другие мутации связаны с заменой тирозина на цистеин, серина на цистеин и лизина на аспарагин.
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