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Summary of the NOTCH3 mutations and mitochondrial abnormalities detected in CADASIL patients |
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| Patient |
Ethnicity |
Notch3mutation detected |
NS+ mtDNA sequence changes |
Mitochondrial haplogroup Of CADASIL patients |
Percentage● of mitochondrial haplogroup in controls (n = 552) |
|
|
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| 1 |
Saudi |
c.406 C> T |
14113 |
M |
3.1% |
| 2 |
Saudi |
c.1568 C> T |
3851 |
K |
4% |
| 3 |
Kuwait |
c.406 C> T |
14171 |
N |
7.4% |
| 4 |
Sudan |
ND |
15048 |
preHV1 |
17.9% |
| 5 |
Yemen |
c.475 C> T |
14966 |
J |
21% |
|
ND = not detected + All non-synonymous (NS) mtDNA sequence changes reported above were not detected in 159 matching healthy controls. ● Percentage of Mitochondrial haplogroups among 552 healthy Arabs as previously reported by Abu-Amero et al., 2008 [20] | |||||
Abu-Amero et al. BMC Research Notes 2008 1:16 doi:10.1186/1756-0500-1-16 |
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