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. 2019 Jan 18;12(1):8–15. doi: 10.18240/ijo.2019.01.02

Table 2. CYP1B1 haplotypes associated with CYP1B1 mutations in Pakistani PCG patients.

Family Mutation rs2617266 (-12T>C) rs10012 (p.R48G) rs1056827 (p.A119S) rs1056836 (p.L432V) rs1056837 (p.D449D) rs1800440 (p.N453S)
PCG-22 p.R390H C C G C C G
PCG-23 p.R390H C C G C C G
PCG-26 p.R390H C C G C C G
PCG-27 p.R390H C C G G T A
PCG-24 p.P437L C C G C T A
PCG-28 p.P350T; p.V364M C C G C C G
GLIU-01 p.(L13*) T G T C C A