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Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

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Description scientific article published on 03 November 2018
Author/s

author: Patrizia Amati-Bonneau  Pascal Reynier  David Goudenège  Vincent Procaccio  Leila Ammar-Keskes  Guy Lenaers  Céline Bris  Faiza Fakhfakh  Majida Charif  Mongia Hachicha 

Publication date November 3, 2018
Language English
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