Литературный обзор NBAS-ассоциированных патологий. Все ли найдены?

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Аннотация

Мутации в гене NBAS вызывают две группы заболеваний – SOPH-синдром и синдром детской печеночной недостаточности 2-го типа (ILFS2, RALF), отличающиеся клиническими проявлениями, течением и прогнозами. Проведен литературный обзор клинико-генетических аспектов данных патологий и молекулярной биологии белка NBAS, а конкретно ретроградного мембранного трафика и нонсенс-опосредованного распада РНК.

Об авторах

Л. Р. Жожиков

Северо-Восточный федеральный университет им. М.К. Аммосова, Медицинский институт

Автор, ответственный за переписку.
Email: leonid.zhozhikov@gmail.com
Россия, 677013, Якутск

Ф. Ф. Васильев

Северо-Восточный федеральный университет им. М.К. Аммосова, Медицинский институт

Email: leonid.zhozhikov@gmail.com
Россия, 677013, Якутск

Н. Р. Максимова

Северо-Восточный федеральный университет им. М.К. Аммосова, Медицинский институт

Email: leonid.zhozhikov@gmail.com
Россия, 677013, Якутск

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© Л.Р. Жожиков, Ф.Ф. Васильев, Н.Р. Максимова, 2023