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MITODIAG , Réseau

Last name: MITODIAG

First name: Réseau

February 2021 (v1)

Journal article

Metadata-only

Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases

Rucheton, Benoit Ader, Flavie Goudenege, David

The molecular study of mitochondrial diseases, essential for diagnosis, is special due to the dual genetic origin of these pathologies: mitochondrial DNA and nuclear DNA. Complete mtDNA sequencing still remains the first line diagnostic test followed if negative, by resequencing panels of several hundred mitochondrially-encoded nuclear genes....

Uploaded on: April 14, 2023