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. Author manuscript; available in PMC: 2016 Oct 18.
Published in final edited form as: J Med Genet. 2016 Jan 20;53(6):389–396. doi: 10.1136/jmedgenet-2015-103457

Figure 1.

Figure 1

Family pedigree and the c.A98G, p.Glu33Gly mutation in the ACER3 gene. (A) Family pedigree and mutation genotype; filled symbols represent affected individuals. (B) The mutation (arrow) in patient II-2 (upper), the mother I-1 (middle) and the healthy sister II-6 (lower chromatogram). (C) Conservation of the Glu33 residue throughout evolution and among alkaline ceramidase proteins.