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(a) DNA chromatogram of the relevant PXDN fragment for the carrier and homozygous variant are shown (b). Family pedigree and segregation of a novel missense mutation (c.3496G>A; p.Gly1166Arg) in the PXDN gene. (c). Multiple sequence alignment of the region of the PXDN protein surrounding the novel Gly1166Arg mutation in various species. The glycine residue (indicated with an arrow) is highly conserved among all species analyzed.
