Research Article
Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome
Table 6
Mutation types in CD40L gene.
| Reports | Year | Number of mutations | Missense (%) | Nonsense (%) | Deletion (%) | Insertion (%) | Splice site (%) |
| This study | 2013 | 19 | 31.6 | 10.5 | 36.8 | 10.5 | 10.5 | Nonoyama et al. [18] | 1997 | 13 | 30.8 | 23.1 | 23.1 | 0 | 23.1 | Seyama et al. [20] | 1998 | 28 | 32.1 | 17.9 | 7.2 | 14.3 | 32.1 |
Lee et al. [32] | 2005 | 61 | 18.0 | 24.6 | 21.3 | 11.5 | 24.6 | Winkelstein et al. [17] | 2003 | 54 | 22.2 | 18.5 | 24.1 | 11.1 | 24.1 | CD40Lbase [46] | 2011 | 221 | 31.7 | 23.5 | 17.2 | 10.4 | 16.3 |
Cabral-Marques et al. [19] | 2014 | 26 | 34.6 | 26.9 | 11.5 | 7.7 | 11.5 |
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