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Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
Gajda, Anna; Horváth, Emese; Hortobágyi, Tibor; Gergev, Gyurgyinka; Szabó, Hajnalka; Farkas, Katalin; Nagy, Nikoletta; Széll, Márta; Sztriha, László.
Afiliação
  • Gajda A; Department of Pediatrics, University of Szeged, Szeged, Hungary annagajd@gmail.com.
  • Horváth E; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
  • Hortobágyi T; Department of Neuropathology, University of Debrecen, Debrecen, Hungary.
  • Gergev G; Department of Pediatrics, University of Szeged, Szeged, Hungary 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Szabó H; Department of Pediatrics, University of Szeged, Szeged, Hungary.
  • Farkas K; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
  • Nagy N; Department of Medical Genetics, University of Szeged, Szeged, Hungary Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
  • Széll M; Department of Medical Genetics, University of Szeged, Szeged, Hungary Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
  • Sztriha L; Department of Pediatrics, University of Szeged, Szeged, Hungary.
J Child Neurol ; 30(5): 627-30, 2015 Apr.
Article em En | MEDLINE | ID: mdl-24056153

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Proteínas Musculares / Mutação Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Proteínas Musculares / Mutação Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article