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Genodiagnostics of Leber 's amaurosis

Average price: ≈136€
It is treated in 39 clinics
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Genodiagnostics of Leber 's amaurosis

Description

 Генодиагностика амавроза Лебера предполагает поиск наиболее частых мутаций в генах, связанных с заболеванием. Всего известно 18 из этих генов. В клинической практике обычно прибегают к изучению генов сRX (ответственных за экспрессию гомеобокса белка колбочек), LRAT (кодирует фермент лецитин ретинол ацилтрансферазу) и RPE65 (кодирует фермент ретиноид изомеридролазу).
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