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Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.
Lysko, Daniel E; Meireles, Ana M; Folland, Chiara; McNamara, Elyshia; Laing, Nigel G; Lamont, Phillipa J; Ravenscroft, Gianina; Talbot, William S.
Afiliação
  • Lysko DE; Department of Developmental Biology, Stanford University, Stanford, California, USA.
  • Meireles AM; Department of Developmental Biology, Stanford University, Stanford, California, USA.
  • Folland C; Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • McNamara E; Centre of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Laing NG; Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • Lamont PJ; Centre of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • Talbot WS; Centre of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
Hum Mutat ; 43(9): 1216-1223, 2022 09.
Article em En | MEDLINE | ID: mdl-35485770

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Neuregulina-1 Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Neuregulina-1 Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos