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©2012 Baishideng Publishing Group Co.
World J Gastroenterol. Feb 28, 2012; 18(8): 814-820
Published online Feb 28, 2012. doi: 10.3748/wjg.v18.i8.814
Published online Feb 28, 2012. doi: 10.3748/wjg.v18.i8.814
Table 3 Germline mutations of MSH2 gene detected in 4/34 Lynch syndrome patients
| Gene | Patients ID | Age | Exon/intron region | Nucleotide change | Consequence |
| MSH2 | LS8 | 50 | Exon 12 | c.2005G > C | Missense mutation (G669R) |
| LS20 | 43 | Exon 12 | c.2005G > C | Missense mutation (G669R) | |
| LS37 | 41 | Intron 12 | c.2006-6T > C | Splice-site mutation | |
| LS41 | 49 | Exon 1 | c.142G > T | Nonsense mutation (E48X) |
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Citation: Zahary MN, Kaur G, Abu Hassan MR, Singh H, Naik VR, Ankathil R. Germline mutation analysis of
MLH1 andMSH2 in Malaysian Lynch syndrome patients. World J Gastroenterol 2012; 18(8): 814-820 - URL: https://www.wjgnet.com/1007-9327/full/v18/i8/814.htm
- DOI: https://dx.doi.org/10.3748/wjg.v18.i8.814