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Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.
Thorpe, Jeremy; Frelin, Laurence P; McCann, Meghan; Pardo, Carlos A; Cohen, Bernard A; Comi, Anne M; Pevsner, Jonathan.
Afiliação
  • Thorpe J; Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Frelin LP; Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • McCann M; Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Pardo CA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Cohen BA; Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Comi AM; Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Pevsner J; Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland,
J Invest Dermatol ; 141(3): 685-688, 2021 03.
Article em En | MEDLINE | ID: mdl-32771470
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Sturge-Weber / Subunidades alfa de Proteínas de Ligação ao GTP Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Sturge-Weber / Subunidades alfa de Proteínas de Ligação ao GTP Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos