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A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
Kiiski, Kirsi; Lehtokari, Vilma-Lotta; Löytynoja, Ari; Ahlstén, Liina; Laitila, Jenni; Wallgren-Pettersson, Carina; Pelin, Katarina.
Afiliação
  • Kiiski K; The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Lehtokari VL; The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Löytynoja A; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Ahlstén L; The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Laitila J; The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Wallgren-Pettersson C; The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Pelin K; The Folkhälsan Institute of Genetics and The Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
Eur J Hum Genet ; 24(4): 574-80, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26197980
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Variações do Número de Cópias de DNA / Proteínas Musculares Tipo de estudo: Observational_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Variações do Número de Cópias de DNA / Proteínas Musculares Tipo de estudo: Observational_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article