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A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.
Davies, Kayli C; Fearnley, Liam G; Snell, Penny; Bourke, David; Mossman, Stuart; Kyne, Karen; McKeown, Colina; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J.
Afiliação
  • Davies KC; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • Fearnley LG; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia.
  • Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • Bourke D; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
  • Mossman S; Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia.
  • Kyne K; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • McKeown C; Department of Neurology, Wellington Hospital, Wellington, 6242, New Zealand.
  • Delatycki MB; Department of Neurology, Wellington Hospital, Wellington, 6242, New Zealand.
  • Bahlo M; Capital and Coast District Health Board, Wellington Regional Hospital, Wellington, 6021, New Zealand.
  • Lockhart PJ; Genetic Health Service New Zealand, Wellington Hospital, Wellington, 6242, New Zealand.
J Neurol ; 2024 Sep 09.
Article em En | MEDLINE | ID: mdl-39249106
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article