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Gene diagnostics of glycine encephalopathy

Average price: ≈335.3€
It is treated in 24 clinics
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Gene diagnostics of glycine encephalopathy

Description

 Генодиагностика глициновой энцефалопатии включает молекулярно-генетические тесты с одновременным поиском мутаций в трех разных генах: GLDC, GCSH, AMT. Белки, кодируемые этими генами, являются факторами в системе расщепления глицина и участвуют в катаболизме аминокислоты глицина в головном мозге, почках и печени. Нарушение использования глицина приводит к его накоплению в тканях (в том числе нервных) в токсичных концентрациях.
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