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Genetic diagnosis of Diamond-Blackfen anemia

Average price: ≈200.5€
It is treated in 174 clinics
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Genetic diagnosis of Diamond-Blackfen anemia

Description

 Генодиагностика анемии Даймонда-Блэкфена основана на поиске дефектов в гене RPS19, расположенном в локусе 19q13. В случае генных мутаций нарушаются структура и функция рибосомного белка S19, возникает гипоплазия красной кровяной линии в костном мозге и нарушается созревание эритроцитов. Возможно выявление мутаций как у родившегося ребенка, так и у его близких родственников, а также пренатальная диагностика анемии Даймонда-Блэкфена.
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