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]
Producer: 20101216Description: E1836-50 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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