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SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Stödberg, Tommy; Magnusson, Måns; Lesko, Nicole; Wredenberg, Anna; Martin Munoz, Daniel; Stranneheim, Henrik; Wedell, Anna.
Afiliação
  • Stödberg T; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
  • Magnusson M; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
  • Lesko N; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
  • Wredenberg A; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
  • Martin Munoz D; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
  • Stranneheim H; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
  • Wedell A; Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Ka
Neurol Genet ; 6(4): e478, 2020 Aug.
Article em En | MEDLINE | ID: mdl-32754646
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article