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Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.
Imai-Okazaki, Atsuko; Nitta, Kazuhiro R; Yatsuka, Yukiko; Sugiura, Ayumu; Arao, Masato; Shimura, Masaru; Ebihara, Tomohiro; Onuki, Takanori; Ichimoto, Keiko; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi.
Affiliation
  • Imai-Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Nitta KR; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Yatsuka Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Sugiura A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Arao M; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
  • Shimura M; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Ebihara T; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Onuki T; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Ichimoto K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Ohtake A; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
  • Murayama K; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
  • Okazaki Y; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.
J Inherit Metab Dis ; 45(6): 1143-1150, 2022 11.
Article de En | MEDLINE | ID: mdl-36053827
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: ADN mitochondrial / Maladies mitochondriales Aspects: Patient_preference Limites: Humans Langue: En Journal: J Inherit Metab Dis Année: 2022 Type de document: Article Pays d'affiliation: Japon Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: ADN mitochondrial / Maladies mitochondriales Aspects: Patient_preference Limites: Humans Langue: En Journal: J Inherit Metab Dis Année: 2022 Type de document: Article Pays d'affiliation: Japon Pays de publication: États-Unis d'Amérique