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Genodiagnostics of hypomyelin leukodystrophy

Average price: ≈248.4€
It is treated in 21 clinic
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Genodiagnostics of hypomyelin leukodystrophy

Description

 Генодиагностика гипомиелинизированной лейкодистрофии состоит из проверки генных мутаций и формы наследственного нейродегенеративного заболевания. Всего известно 19 клинических вариантов патологии. Мутации в гене GJC2 вызывают HDL2 с симптомами болезни Пелицея-Мерцбахера, гены POLR3A и POLR3B - HDL7 и 8 с олигодонтией и / или гипогонадотропным гипогонадизмом или без них.
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