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©2006 Baishideng Publishing Group Co.
World J Gastroenterol. Feb 21, 2006; 12(7): 1136-1139
Published online Feb 21, 2006. doi: 10.3748/wjg.v12.i7.1136
Published online Feb 21, 2006. doi: 10.3748/wjg.v12.i7.1136
Table 1 Mutations of RET proto-oncogene in HD and IND patients
Case | Group | Exon | Nucleotide change | Amino acid change | Mutation type |
1 | HD | 11 | G15165→A | G667S | Missense mutation |
2 | HD | 11 | G15165→A | G667S | Missense mutation |
3 | HD | 13 | 18974insG | --- | Frameshift mutation |
4 | HD | 13 | 18974insG | --- | Frameshift mutation |
5 | HD | 13 | A18919→G | K756E | Missense mutation |
6 | HD | 15 | G20692→A | Q916Q | Silent mutation |
7 | HD/IND | 11 | G15165→A | G667S | Missense mutation |
8 | HD/IND | 13 | T18888→G | L745L | Silent mutation |
- Citation: Tou JF, Li MJ, Guan T, Li JC, Zhu XK, Feng ZG. Mutation of RET proto-oncogene in Hirschsprung’s disease and intestinal neuronal dysplasia. World J Gastroenterol 2006; 12(7): 1136-1139
- URL: https://www.wjgnet.com/1007-9327/full/v12/i7/1136.htm
- DOI: https://dx.doi.org/10.3748/wjg.v12.i7.1136