Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. [electronic resource]
- Proceedings of the National Academy of Sciences of the United States of America Mar 2011
- 5372-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1091-6490
10.1073/pnas.1014265108 doi
Adolescent Adult Age of Onset Base Sequence Cerebrovascular Circulation Cerebrovascular Disorders--genetics Child Child, Preschool DNA Mutational Analysis Ethnicity--genetics Female Homozygote Humans Infant Infant, Newborn Male Monomeric GTP-Binding Proteins--genetics Mutation Pedigree SAM Domain and HD Domain-Containing Protein 1 Stroke--genetics Young Adult