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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J.
Afiliação
  • Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Briere LC; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Kanca O; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Walker MA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • High FA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Vanderver A; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Krier J; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Carmichael N; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Callahan C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Taft RJ; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Simons C; Brigham Genomic Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Helman G; Brigham Genomic Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Network UD; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Wangler MF; Illumina, Inc., San Diego, CA 92121, USA.
  • Yamamoto S; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
  • Sweetser DA; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia.
  • Bellen HJ; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Hum Mol Genet ; 29(9): 1568-1579, 2020 06 03.
Article em En | MEDLINE | ID: mdl-32356556
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Proteínas de Transporte da Membrana Mitocondrial / Leucoencefalopatias / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Proteínas de Transporte da Membrana Mitocondrial / Leucoencefalopatias / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article