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Genodiagnostics of recessive osteopetrosis (marble bone disease)

Average price: ≈294.1€
It is treated in 162 clinics
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Genodiagnostics of recessive osteopetrosis (marble bone disease)

Description

 Генетический диагноз рецессивного остеопетроза (болезнь мраморной кости) должен определить ответственные гены и форму заболевания. Большинство случаев остеопетроза связано с дефектами генов TCIRG1 и сLCN7. Также могут быть обнаружены мутации в других генах, участвующих в созревании и функции остеокластов - OSTM1, SNX10, TNFSF11, TNFRSF11A, PLEKHM1. Пренатальная диагностика болезни сурков возможна с помощью пренатального скрининга (УЗИ, молекулярно-генетический анализ).
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