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Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.
Alila-Fersi, Olfa; Chamkha, Imen; Majdoub, Imen; Gargouri, Lamia; Mkaouar-Rebai, Emna; Tabebi, Mouna; Tlili, Abdelaziz; Keskes, Leila; Mahfoudh, Abdelmajid; Fakhfakh, Faiza.
Affiliation
  • Alila-Fersi O; Laboratoire de Génétique Moléculaire et Fonctionnelle, Faculté des Sciences de Sfax, University of Sfax, Tunisia. Electronic address: alilafersiolfa@yahoo.fr.
  • Chamkha I; Department of Mitochondrial Medicine, Lund University, Sweden.
  • Majdoub I; Service de Réanimation Pédiatrique, C.H.U. Hédi Chaker de Sfax, Tunisia.
  • Gargouri L; Service de Réanimation Pédiatrique, C.H.U. Hédi Chaker de Sfax, Tunisia.
  • Mkaouar-Rebai E; Laboratoire de Génétique Moléculaire et Fonctionnelle, Faculté des Sciences de Sfax, University of Sfax, Tunisia.
  • Tabebi M; Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, University of Sfax, Tunisia.
  • Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
  • Keskes L; Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, University of Sfax, Tunisia.
  • Mahfoudh A; Service de Réanimation Pédiatrique, C.H.U. Hédi Chaker de Sfax, Tunisia.
  • Fakhfakh F; Laboratoire de Génétique Moléculaire et Fonctionnelle, Faculté des Sciences de Sfax, University of Sfax, Tunisia. Electronic address: faiza.fakhfakh02@gmail.com.
Biochem Biophys Res Commun ; 484(1): 71-78, 2017 02 26.
Article in En | MEDLINE | ID: mdl-28104394
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA, Ribosomal / Cardiomyopathy, Dilated / Mitochondrial Proton-Translocating ATPases / Hearing Loss / Mitochondria, Heart / Mutation Type of study: Diagnostic_studies / Screening_studies Limits: Adolescent / Animals / Humans / Infant / Male Language: En Journal: Biochem Biophys Res Commun Year: 2017 Document type: Article Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA, Ribosomal / Cardiomyopathy, Dilated / Mitochondrial Proton-Translocating ATPases / Hearing Loss / Mitochondria, Heart / Mutation Type of study: Diagnostic_studies / Screening_studies Limits: Adolescent / Animals / Humans / Infant / Male Language: En Journal: Biochem Biophys Res Commun Year: 2017 Document type: Article Country of publication: United States