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LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.
Alastalo, Tero-Pekka; West, Gun; Li, Song-Ping; Keinänen, Anni; Helenius, Mikko; Tyni, Tiina; Lapatto, Risto; Turanlahti, Maila; Heikkilä, Päivi; Kääriäinen, Helena; Laakso, Markku; Mauermann, Monika; Herrmann, Harald; Pihkala, Jaana; Taimen, Pekka.
Afiliação
  • Alastalo TP; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • West G; Blueprint Genetics, Helsinki, Finland.
  • Li SP; Department of Pathology, University of Turku and Turku University Hospital, Turku, Finland.
  • Keinänen A; MediCity Research Laboratory, University of Turku, Turku, Finland.
  • Helenius M; Department of Pathology, University of Turku and Turku University Hospital, Turku, Finland.
  • Tyni T; MediCity Research Laboratory, University of Turku, Turku, Finland.
  • Lapatto R; Department of Pathology, University of Turku and Turku University Hospital, Turku, Finland.
  • Turanlahti M; MediCity Research Laboratory, University of Turku, Turku, Finland.
  • Heikkilä P; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Kääriäinen H; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Laakso M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Mauermann M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Herrmann H; Department of Pathology, Helsinki Central University Hospital, Helsinki, Finland.
  • Pihkala J; National Institute of Health and Welfare, Finland, and Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
  • Taimen P; Department of Medicine, University of Eastern Finland, Kuopio, Finland.
Hum Mutat ; 36(7): 694-703, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25820511
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Displasia Arritmogênica Ventricular Direita / Senilidade Prematura / Polimorfismo de Nucleotídeo Único / Lamina Tipo A / Estudos de Associação Genética Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Displasia Arritmogênica Ventricular Direita / Senilidade Prematura / Polimorfismo de Nucleotídeo Único / Lamina Tipo A / Estudos de Associação Genética Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Finlândia