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. 2018 May;7(2):73–78. doi: 10.5582/irdr.2018.01026

Table 1. The hot mutation sites of Chinese patients.

Number of Patients Disease type Pathogenic gene Frequent mutation site Ref.
16 cblC MMACHC c.609G>A /c.658_660delAAG (12)
43 isolated MMA MUT c.729_730insTT (10)
79 cblC MMACHC c.609G>A, c.658_660delAAG, c.482G>A, c.394C>T, c.80A>G (11)