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Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh, Joseph T; Tintos-Hernández, Jesus A; Murali, Chaya N; Penon-Portmann, Monica; Flores-Mendez, Marco; Santana, Adrian; Bulos, Joshua A; Du, Kang; Dupuis, Lucie; Damseh, Nadirah; Mendoza-Londoño, Roberto; Berera, Camilla; Lee, Julieann C; Phillips, Joanna J; Alves, César A P F; Dmochowski, Ivan J; Ortiz-González, Xilma R.
Afiliação
  • Shieh JT; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, CA, 94143.
  • Tintos-Hernández JA; These authors contributed equally to this work.
  • Murali CN; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104.
  • Penon-Portmann M; These authors contributed equally to this work.
  • Flores-Mendez M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
  • Santana A; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, CA, 94143.
  • Bulos JA; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104.
  • Du K; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104.
  • Dupuis L; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104.
  • Damseh N; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104.
  • Mendoza-Londoño R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
  • Berera C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
  • Lee JC; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
  • Phillips JJ; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, CA, 94143.
  • Alves CAPF; Division of Neuropathology, Department of Pathology, University of California San Francisco, CA, 94143.
  • Dmochowski IJ; Division of Neuropathology, Department of Pathology, University of California San Francisco, CA, 94143.
  • Ortiz-González XR; Department of Neurological Surgery, University of California San Francisco, CA, 94143.
medRxiv ; 2023 Jan 31.
Article em En | MEDLINE | ID: mdl-36778397
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article