Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Thiele, Holger

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. [electronic resource] - Human mutation Nov 2010 - E1836-50 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.21357 doi


Adult
Autoimmune Diseases of the Nervous System--genetics
Base Sequence
Cerebral Arterial Diseases--genetics
Codon, Nonsense
Consanguinity
Constriction, Pathologic
Cytokines--genetics
DNA Mutational Analysis
DNA Primers--genetics
Female
Gene Expression
Haplotypes
Homozygote
Humans
Male
Monomeric GTP-Binding Proteins--genetics
Nervous System Malformations--genetics
Pedigree
SAM Domain and HD Domain-Containing Protein 1
Siblings
Stroke--genetics
Young Adult