Supp. Table S1.
Compared distribution of each type of mutation in the LDLR gene between the French cohort and worldwide reports*
| % in the French cohort (All probands) | % in the French cohort (Unique events) | % in worldwide reported unique events* | p value ** | |
|---|---|---|---|---|
| Missense | 47.7 | 46.0 | 47 | 0.793 |
| Nonsense | 17.8 | 11.3 | 9 | 0.143 |
| Frameshift | 11.8 | 14.6 | 19 | 0.053 |
| In frame deletions, insertions or indels | 2.7 | 3.8 | 4 | 0.743 |
| Splice | 11.2 | 13.6 | 8 | 0.002 |
| 5′ UTR | 0.4 | 1.0 | 2 | 0.130 |
| Major rearangements | 8.5 | 9.7 | 11 | 0.491 |
| N | 1012 | 391 | 1066 | |
*
Leigh et al.2008.
**
Chi2 test.