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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Calame, Daniel G; Fatih, Jawid M; Herman, Isabella; Coban-Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Jhangiani, Shalini N; Marafi, Dana; Gibbs, Richard A; Posey, Jennifer E; Mehta, Vidya P; Mohila, Carrie A; Abid, Farida; Lotze, Timothy E; Pehlivan, Davut; Adesina, Adekunle M; Lupski, James R.
Afiliación
  • Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Fatih JM; Texas Children's Hospital, Houston, Texas, 77030, USA.
  • Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Du H; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Mitani T; Texas Children's Hospital, Houston, Texas, 77030, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Mehta VP; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Mohila CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Abid F; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, 13110, Kuwait.
  • Lotze TE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Pehlivan D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Adesina AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Lupski JR; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA.
Ann Clin Transl Neurol ; 8(10): 2052-2058, 2021 10.
Article en En | MEDLINE | ID: mdl-34524739
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Distrofia Muscular de Emery-Dreifuss / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Distrofia Muscular de Emery-Dreifuss / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos