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Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
Deuis, Jennifer R; Kumble, Smitha; Keramidas, Angelo; Ragnarsson, Lotten; Simons, Cas; Pais, Lynn; White, Susan M; Vetter, Irina.
Afiliación
  • Deuis JR; Institute for Molecular Bioscience, 306 Carmody Road, The University of Queensland, St Lucia, QLD 4072, Australia.
  • Kumble S; Murdoch Children's Research Institute, 50 Flemington Road, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Keramidas A; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, VIC 3052, Australia.
  • Ragnarsson L; Institute for Molecular Bioscience, 306 Carmody Road, The University of Queensland, St Lucia, QLD 4072, Australia.
  • Simons C; Institute for Molecular Bioscience, 306 Carmody Road, The University of Queensland, St Lucia, QLD 4072, Australia.
  • Pais L; Murdoch Children's Research Institute, 50 Flemington Road, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • White SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, United States.
  • Vetter I; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, VIC 3052, Australia.
Hum Mol Genet ; 33(2): 103-109, 2024 Jan 07.
Article en En | MEDLINE | ID: mdl-37721535
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eritromelalgia Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eritromelalgia Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Australia