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Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang, Julia; Kim, Emily; Dai, Honzheng; Stefans, Vikki; Vogel, Hannes; Al Jasmi, Fatma; Schrier Vergano, Samantha A; Castro, Diana; Bernes, Saunder; Bhambhani, Vikas; Long, Catherine; El-Hattab, Ayman W; Wong, Lee-Jun.
Afiliación
  • Wang J; Medical Scientist Training Program, Program in Developmental Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address: julia.wang@bcm.edu.
  • Kim E; Department of BioSciences, Rice University, 6100 Main Street, Houston, TX 77005, United States.
  • Dai H; Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.
  • Stefans V; UAMS College of Medicine, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR 72202, United States.
  • Vogel H; Pathology, Stanford University School of Medicine, R241 Edwards Building, 300 Pasteur Drive, Palo Alto, CA 94305, United States.
  • Al Jasmi F; Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, 601 Children's Lane, Norfolk, VA 23507, United States.
  • Castro D; Department of Pediatric, Neurology and Neurotherapeutics, Children's Health Dallas, University of Texas Southwestern, 2350 N Stemmons Freeway, Dallas, TX 75207, United States.
  • Bernes S; Department of Neurology, Phoenix Children's Hospital, Barrows Neurological Institute, 1919 East Thomas Road, Phoenix, AZ 85016, United States.
  • Bhambhani V; Genomics Medicine Program, Children's Hospital Minnesota, 2525 Chicago Ave S, Minneapolis, MN 55404, United States.
  • Long C; Genomics Medicine Program, Children's Hospital Minnesota, 2525 Chicago Ave S, Minneapolis, MN 55404, United States.
  • El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Wong LJ; Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address: ljwong@bcm.edu.
Mol Genet Metab ; 124(2): 124-130, 2018 06.
Article en En | MEDLINE | ID: mdl-29735374
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Timidina Quinasa / ADN Mitocondrial / Enfermedades Mitocondriales / Mitocondrias / Enfermedades Musculares / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Timidina Quinasa / ADN Mitocondrial / Enfermedades Mitocondriales / Mitocondrias / Enfermedades Musculares / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2018 Tipo del documento: Article