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©2008 The WJG Press and Baishideng.
World J Gastroenterol. Apr 21, 2008; 14(15): 2383-2387
Published online Apr 21, 2008. doi: 10.3748/wjg.14.2383
Published online Apr 21, 2008. doi: 10.3748/wjg.14.2383
Table 2 Atox1 gene analysis in Wilson disease patients
| Distribution of the variations detected in the Atox1-gene among the ATP7B-genotypes | ||||||
| Mutations in the ATP7B-gene | No. of patients | 5’UTR -99 T>C | 5’UTR -68 C>T | No variation within the sequence | ||
| Heterozygous | Homozygous | Heterozygous | Homozygous | |||
| H1096Q/H1096Q | 22 | 6 | 4 | - | - | 12 |
| R1041W/R1041W | 2 | - | 2 | |||
| G12810N/G12810N | 1 | - | 1 | |||
| G1266R/G1266R | 1 | 1 | - | |||
| G710A/G710A | 1 | 1 | ||||
| K844k-fs/K844k-fs | 1 | 1 | ||||
| W779X/W779X | 1 | 1 | ||||
| D765N/Y741X | 2 | 1 | 1 | |||
| 3400 Del C/2299InsC | 1 | 1 | ||||
| 3400 Del C/H1096Q | 1 | 1 | ||||
| 3400 Del C/G982V | 1 | 1 | ||||
| 3400 Del C/W779X | 1 | 1 | ||||
| H1096Q/M769V | 1 | 1 | ||||
| m.n.d./m.n.d. | 11 | 7 | 2 | 4 | ||
| H1096Q/m.n.d. | 8 | 3 | 1 | 4 | ||
| W 778 X/m.n.d. | 1 | 1 | ||||
| W779X/m.n.d. | 2 | 1 | 1 | |||
| D765N/m.n.d. | 2 | 2 | ||||
| G710S/m.n.d. | 1 | 1 | ||||
| M769V/m.n.d. | 1 | 1 | ||||
| 2299 InsC/m.n.d. | 1 | 1 | ||||
| Total | 63 | 22 | 9 | 2 | 0 | 32 |
- Citation: Simon I, Schaefer M, Reichert J, Stremmel W. Analysis of the human Atox 1 homologue in Wilson patients. World J Gastroenterol 2008; 14(15): 2383-2387
- URL: https://www.wjgnet.com/1007-9327/full/v14/i15/2383.htm
- DOI: https://dx.doi.org/10.3748/wjg.14.2383