A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.
作者信息
Davies Kayli C, Fearnley Liam G, Snell Penny, Bourke David, Mossman Stuart, Kyne Karen, McKeown Colina, Delatycki Martin B, Bahlo Melanie, Lockhart Paul J
机构信息
Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia.
出版信息
J Neurol. 2024 Dec;271(12):7622-7627. doi: 10.1007/s00415-024-12675-9. Epub 2024 Sep 9.
PMID:39249106
Abstract
摘要
Zotero 插件