Table 1 |
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|
Summary of the NOTCH3 mutations detected in our CADASIL families |
||||||
|
Family |
Ethnicity |
Mutation detected |
Exon |
Amino acid change |
Domain |
Frequency in our controls (n= 100) |
|
|
||||||
|
A |
Saudi |
c.406C>T |
3 |
p.Arg110>Cys |
EGF2 |
ND |
|
B |
Kuwait |
c.406C>T |
3 |
p.Arg110>Cys |
EGF2 |
ND |
|
C |
Yemen |
c.475 C>T |
4 |
p.Arg133>Cys |
EGF3 |
ND |
|
|
||||||
|
EGF = Epidermal Growth Factor Like Repeats. ND = not detected |
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|
Bohlega et al. BMC Medical Genetics 2007 8:67 doi:10.1186/1471-2350-8-67 |
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