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Genodiagnostics of X-linked sideroblastic anemia

Average price: ≈289€
It is treated in 14 clinics
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Genodiagnostics of X-linked sideroblastic anemia

Description

 Генодиагностика Х-сцепленной сидеробластной анемии требует обнаружения мутаций в гене ALAS2. Этот ген, располагается на Х-хромосоме, кодирует активность дельта-аминолевулинатсинтазы-2 - фермента, участвующего в синтезе гема, который является компонентом гемоглобина. Существует еще одна форма болезни ‒ Х-сцепленная сидеробластная анемия с атаксией, причина которой заключается в дефектах гена ABCB7.
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