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Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
Pelin, Katarina; Sagath, Lydia; Lehtonen, Johanna; Kiiski, Kirsi; Tynninen, Olli; Paetau, Anders; Johari, Mridul; Savarese, Marco; Wallgren-Pettersson, Carina; Lehtokari, Vilma-Lotta.
Afiliación
  • Pelin K; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.
  • Sagath L; Folkhälsan Research Center, Helsinki, Finland.
  • Lehtonen J; Folkhälsan Research Center, Helsinki, Finland.
  • Kiiski K; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Tynninen O; Folkhälsan Research Center, Helsinki, Finland.
  • Paetau A; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Johari M; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Savarese M; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway.
  • Wallgren-Pettersson C; Folkhälsan Research Center, Helsinki, Finland.
  • Lehtokari VL; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
J Neuromuscul Dis ; 10(5): 977-984, 2023.
Article en En | MEDLINE | ID: mdl-37393515
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Nemalínicas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Neuromuscul Dis Año: 2023 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Nemalínicas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Neuromuscul Dis Año: 2023 Tipo del documento: Article País de afiliación: Finlandia