Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants

Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants

The paper analyses recent publications on the clinical manifestations and diagnosis of mitochondrial diseases caused by defects in nuclear genes. A scientific analysis included about 100 genes. According to the encoded protein and its function, the author has identified 9 gene groups that affect the...

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Bibliographic Details
Main Author:	E. A. Nikolaeva
Format:	Article
Language:	Russian
Published:	Ltd. “The National Academy of Pediatric Science and Innovation” 2016-03-01
Series:	Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:	дети митохондриальные заболевания симптомы ядерная днк митохондриальная днк деплеция множественные делеции 3-метилглутаконовая ацидурия диагностика полное экзомное секвенирование.
Online Access:	https://www.ped-perinatology.ru/jour/article/view/199

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