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 - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Clinica Chimica Acta Année : 2019

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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hal-02388222 , version 1 (01-12-2019)

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Rahma Felhi, Lamia Sfaihi, Majida Charif, Valérie Desquiret-Dumas, Céline Bris, et al.. 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. Clinica Chimica Acta, 2019, 488, pp.104-110. ⟨10.1016/j.cca.2018.11.003⟩. ⟨hal-02388222⟩
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