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. Author manuscript; available in PMC: 2013 Jul 2.
Published in final edited form as: Am J Med Genet A. 2010 Nov;0(11):2775–2783. doi: 10.1002/ajmg.a.33093

TABLE III.

SLC9A6 Mutation Summary

Family Mutation Protein alteration Report
Norwegian c.764_769delAAAGTG p.E255_S256del Gilfillan et al. [2008]
Swedish C.1402C>T p.R468X Gilfillan et al. [2008]
British c.507+1delGTAA p.V144_R1G9del Gilfillan et al. [2008]
Afrikaner c.512_513delAT p.H171fs Christianson et al. [1999]; Gilfillan et al. [2008]
K8310 C.1402C>T p.R468X This report
K9524 C.1219C>T p.Q407X This report