Research Article
SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis
Table 2
Additional clinical features in patients with SAMHD1 mutations.
| | | Gender | Age (years) | Stroke risk factors | Mutations identified |
| | Case | M | 58 | Hypertension | Exon 1
c.64C>T
(p.Pro22Ser) | | Hyperlipidaemia | | Hyperhomocysteinaemia | | Smoking | | Drinking |
| | Case | M | 39 | Hyperlipidaemia | Intron 6
c.696+2T>A
(putative aberrant splicing) | | Smoking | | Drinking |
| | Case | M | 56 | Hypertension | Exon 7
c.841G>A
(p.Glu281Lys) | | Hyperlipidaemia | | Smoking | | Drinking |
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