BioMed Research International / 2015 / Article / Tab 2

Research Article

SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis

Table 2

Additional clinical features in patients with SAMHD1 mutations.

GenderAge (years)Stroke risk factorsMutations identified

Case  M58HypertensionExon 1
c.64C>T
(p.Pro22Ser)
Hyperlipidaemia
Hyperhomocysteinaemia
Smoking
Drinking

Case  M39HyperlipidaemiaIntron 6
c.696+2T>A
(putative aberrant splicing)
Smoking
Drinking

Case  M56HypertensionExon 7
c.841G>A
(p.Glu281Lys)
Hyperlipidaemia
Smoking
Drinking