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Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino, Morgane; Chaussenot, Annabelle; Rouzier, Cécile; Ait-El-Mkadem, Samira; Fragaki, Konstantina; Paquis-Flucklinger, Véronique; Bannwarth, Sylvie.
Affiliation
  • Plutino M; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.
  • Chaussenot A; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.
  • Rouzier C; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.
  • Ait-El-Mkadem S; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.
  • Fragaki K; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.
  • Paquis-Flucklinger V; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France. paquis@unice.fr.
  • Bannwarth S; Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France. bannwarth@unice.fr.
BMC Med Genet ; 19(1): 57, 2018 04 07.
Article in En | MEDLINE | ID: mdl-29625556
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Sequence Analysis, DNA / Mitochondrial Diseases / Mitochondrial Proteins / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies Limits: Aged / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Sequence Analysis, DNA / Mitochondrial Diseases / Mitochondrial Proteins / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies Limits: Aged / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Country of publication: