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. 2011 Jun 10;88(6):839–844. doi: 10.1016/j.ajhg.2011.05.014

Table 1.

Summary of the Four Families and Their Mutations

Family Pattern of Inheritance Mutation Consequence
A autosomal recessive c.1309C>T, p.Arg437X suppresses IP1, a downstream metabolite of PLCD1
B autosomal recessive c.1792-10delTGTAGTGGCC not tested
C autosomal dominant c.1720C>T (antisense strand), p.Ala574Thr not tested
D autosomal dominant c.625T>C, p.Cys209Arg not tested