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The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Van Poucke, Mario; Stee, Kimberley; Bhatti, Sofie F M; Vanhaesebrouck, An; Bosseler, Leslie; Peelman, Luc J; Van Ham, Luc.
Afiliação
  • Van Poucke M; Department of Nutrition, Genetics and Ethology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
  • Stee K; Department of Small Animal Medicine and Clinical Biology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
  • Bhatti SF; Department of Small Animal Medicine and Clinical Biology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
  • Vanhaesebrouck A; Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Bosseler L; Department of Pathology, Bacteriology and Poultry Diseases, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
  • Peelman LJ; Department of Nutrition, Genetics and Ethology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
  • Van Ham L; Department of Small Animal Medicine and Clinical Biology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Eur J Hum Genet ; 25(2): 222-226, 2017 02.
Article em En | MEDLINE | ID: mdl-27966545
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Mutação de Sentido Incorreto / Canais de Potássio Corretores do Fluxo de Internalização / Perda Auditiva Neurossensorial / Homozigoto / Deficiência Intelectual Limite: Animals Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Mutação de Sentido Incorreto / Canais de Potássio Corretores do Fluxo de Internalização / Perda Auditiva Neurossensorial / Homozigoto / Deficiência Intelectual Limite: Animals Idioma: En Ano de publicação: 2017 Tipo de documento: Article