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The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats, Maria Andrea; Morbidoni, Valeria; Silic-Benussi, Micol; Doimo, Mara; Ciminale, Vincenzo; Cassina, Matteo; Sacconi, Sabrina; Hirano, Michio; Basso, Giuseppe; Pierrel, Fabien; Navas, Placido; Salviati, Leonardo; Trevisson, Eva.
Affiliation
  • Desbats MA; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Morbidoni V; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
  • Silic-Benussi M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Doimo M; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
  • Ciminale V; Istituto Oncologico Veneto IRCCS (IOV), Padova, Italy.
  • Cassina M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Sacconi S; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
  • Hirano M; Istituto Oncologico Veneto IRCCS (IOV), Padova, Italy.
  • Basso G; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Pierrel F; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
  • Navas P; Centre de référence des Maladies Neuromusculaires, Hôpital Archet 1, Nice, France.
  • Salviati L; CNRS UMR7277, Inserm U1091, iBV - Institute of Biology Valrose, UNS Université Nice Sophia-Antipolis, Faculté de Médecine, Nice Cedex, France.
  • Trevisson E; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Hum Mol Genet ; 25(19): 4256-4265, 2016 10 01.
Article in En | MEDLINE | ID: mdl-27493029
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Ubiquinone / Muscle Weakness / Alkyl and Aryl Transferases / Mitochondrial Diseases / Mutant Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Ubiquinone / Muscle Weakness / Alkyl and Aryl Transferases / Mitochondrial Diseases / Mutant Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Italia Country of publication: Reino Unido