A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient

作者:Khaleeli Zhaleh; Jaunmuktane Zane; Beaufort Nathalie; Houlden Henry; Haffner Christof; Brandner Sebastian; Dichgans Martin; Werring David*
来源:Journal of Neurology, 2015, 262(5): 1369-1372.
DOI:10.1007/s00415-015-7769-5