Copyright
©2007 Baishideng Publishing Group Co.
World J Gastroenterol. Oct 14, 2007; 13(38): 5147-5150
Published online Oct 14, 2007. doi: 10.3748/wjg.v13.i38.5147
Published online Oct 14, 2007. doi: 10.3748/wjg.v13.i38.5147
Mutation | Nucleotide change | Exon | Predicted effect | Frequency of WD alleles (%) | Frequency of WD alleles in Caucasian patients (%) |
Asp96Gly | 287A>G | 2 | Disrupts Cu 1 | 8 | novel |
Asp196Glu | 588C>A | 2 | Disrupts Cu 2 | 2 | novel |
Arg778Leu1 | 2333G>T | 8 | Disrupts TM4 | 50 | 2 |
Pro992Leu2 | 2975C>T | 13 | Disrupts Ch/TM6 | 27 | 2 |
Val1216Met3 | 3646G>A | 17 | Disrupts ATP binding | 3 | < 1 |
- Citation: Ye S, Gong L, Shui QX, Zhou LF. Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol 2007; 13(38): 5147-5150
- URL: https://www.wjgnet.com/1007-9327/full/v13/i38/5147.htm
- DOI: https://dx.doi.org/10.3748/wjg.v13.i38.5147