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A novel, pathogenic COL4A1 missense variant involving thrombotic microangiopathic leukoencephalopathy in a neonate.
Robinson, Lorraina J; Sudarshan, Duncan; Goold, Eric; Comstock, Jessica; Klonoski, Joshua; Mao, Qinwen; Palmer, Cheryl A; Davidson, Christian.
Affiliation
  • Robinson LJ; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Sudarshan D; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Goold E; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Comstock J; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Klonoski J; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Mao Q; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Palmer CA; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
  • Davidson C; Pathology Department, University of Utah, Salt Lake City, Utah, USA.
J Neuropathol Exp Neurol ; 82(10): 880-883, 2023 09 20.
Article in En | MEDLINE | ID: mdl-37475185
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Leukoencephalopathies Limits: Humans / Newborn Language: En Journal: J Neuropathol Exp Neurol Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Leukoencephalopathies Limits: Humans / Newborn Language: En Journal: J Neuropathol Exp Neurol Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido