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©The Author(s) 2022.
World J Clin Cases. Oct 26, 2022; 10(30): 11082-11089
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11082
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11082
Table 1 Common genetic mutations that cause adenylosuccinate lyase deficiency
| c.1277G>A | c.340T>C | c.-49T>C | c.907C>T | c.736A>G | c.1187G>A | c.569G>A | |
| Mutant protein | p. R426H | p. Y114H | - | p. R303C | p. K246E | p. R396H | p. R190Q |
| Number | 36 | 12 | 5 | 4 | 3 | 3 | 3 |
- Citation: Wang XC, Wang T, Liu RH, Jiang Y, Chen DD, Wang XY, Kong QX. Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report. World J Clin Cases 2022; 10(30): 11082-11089
- URL: https://www.wjgnet.com/2307-8960/full/v10/i30/11082.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i30.11082