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An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.
Ågren, Richard; Geerdink, Niels; Brunner, Han G; Paucar, Martin; Kamsteeg, Erik-Jan; Sahlholm, Kristoffer.
Afiliação
  • Ågren R; Department of Physiology and Pharmacology, Karolinska Institutet, 171 77 Stockholm, Sweden.
  • Geerdink N; Department of Pediatrics, Rijnstate Hospital, 6815 AD Arnhem, The Netherlands.
  • Brunner HG; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Paucar M; Department of Clinical Genetics, MUMC Maastricht, GROW School for Oncology and Developmental Biology, MHENS School for Mental Health and Neuroscience, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
  • Kamsteeg EJ; Department of Neurology, Karolinska University Hospital, 141 86 Stockholm, Sweden.
  • Sahlholm K; Department of Clinical Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.
Int J Mol Sci ; 24(13)2023 Jun 30.
Article em En | MEDLINE | ID: mdl-37446101

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar Limite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suécia

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar Limite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suécia