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PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
Wang, David S; Wu, Xingyao; Bai, Yunhong; Zaidman, Craig; Grider, Tiffany; Kamholz, John; Lupski, James R; Connolly, Anne M; Shy, Michael E.
Afiliación
  • Wang DS; Department of Neurology Neuromuscular Division University of Iowa Hospitals and Clinics Iowa City Iowa.
  • Wu X; Department of Neurology Neuromuscular Division University of Iowa Hospitals and Clinics Iowa City Iowa.
  • Bai Y; Department of Neurology Neuromuscular Division University of Iowa Hospitals and Clinics Iowa City Iowa.
  • Zaidman C; Departments of Neurology and Pediatrics Neuromuscular Division Washington University School of Medicine St. Louis Missouri.
  • Grider T; Department of Neurology Neuromuscular Division University of Iowa Hospitals and Clinics Iowa City Iowa; Department of Neurology Neurogenetics Division University of Iowa Hospitals and Clinics Iowa City Iowa.
  • Kamholz J; Department of Neurology Neurogenetics Division University of Iowa Hospitals and Clinics Iowa City Iowa.
  • Lupski JR; Department of Pediatrics Baylor College of Medicine Houston Texas.
  • Connolly AM; Departments of Neurology and Pediatrics Neuromuscular Division Washington University School of Medicine St. Louis Missouri.
  • Shy ME; Department of Neurology Neuromuscular Division University of Iowa Hospitals and Clinics Iowa City Iowa; Department of Neurology Neurogenetics Division University of Iowa Hospitals and Clinics Iowa City Iowa.
Ann Clin Transl Neurol ; 4(4): 236-245, 2017 04.
Article en En | MEDLINE | ID: mdl-28382305
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Ann Clin Transl Neurol Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Ann Clin Transl Neurol Año: 2017 Tipo del documento: Article