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A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif, Maria; Mocanu, Ionut Dragos; Abdullah, Uzma; Höhne, Wolfgang; Altmüller, Janine; Makhdoom, Ehtisham Ul Haq; Thiele, Holger; Baig, Shahid Mahmood; Nürnberg, Peter; Graul-Neumann, Luitgard; Hussain, Muhammad Sajid.
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  • Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Mocanu ID; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Abdullah U; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Höhne W; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi, Pakistan.
  • Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Makhdoom EUH; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Thiele H; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.
  • Baig SM; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Graul-Neumann L; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Hussain MS; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
Am J Med Genet A ; 188(4): 1251-1258, 2022 04.
Article en En | MEDLINE | ID: mdl-34913263
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Temblor Esencial / Canalopatías Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Temblor Esencial / Canalopatías Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania