Fig. 4

Mutation analysis of human PHEX. Mutations that span multiple exons (top section) are represented by lines, while intron-specific (middle section) and exon-specific (lower section) mutations are clustered by loci. Affected nucleotides are numbered. A, adenine; C, cytosine; G, guanine; T, thymine; del, deletion mutations; dup, duplication mutations; ins, insertion mutations; delins, combination deletion/insertion mutations; >, substitution mutations [56]