id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_3ynmmi73c5b2dppp4h463edeka	B. Xin	Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke	2011.0	6	.pdf	application/pdf	6100	844	60	Early signs of the disease included mild intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thrive and short stature. The early onset or recurrence of strokes secondary to cerebral vasculopathy seems to always be associated with poor Through a genomewide homozygosity mapping study and mutational analysis, we identified a genetic variation in the SAMHD1 Partial pedigree of the family with SAMHD1 gene mutation associated with cerebral vasculopathy. indicate affected individuals included in the genetic mapping study and sequence analysis. Clinical features of 14 patients with the homozygous mutation in SAMHD1 gene of strokes, and for the four severely affected patients, the onset Additional clinical features in individual patient with the homozygous mutation in SAMHD1 gene intron 12 and exon 13 boundary revealed that all affected individuals (n = 14) were homozygous for the mutation, their Identification of the disease-causing mutation in SAMHD1 gene.	./cache/work_3ynmmi73c5b2dppp4h463edeka.pdf	./txt/work_3ynmmi73c5b2dppp4h463edeka.txt