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

Davies, Kayli C; Fearnley, Liam G; Snell, Penny; Bourke, David; Mossman, Stuart; Kyne, Karen; McKeown, Colina; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J.

Afiliación

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 en En | MEDLINE | ID: mdl-39249106

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neurol Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Alemania

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