PMC6374454_01
Genomic DNA sequence of the patient's PHEX gene, indicating a novel mutation, NM_000444.6(PHEX):c.2202del [p.Asn736Ilefs*4], in exon 22
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Fig1
PCR-direct sequencing revealed a PHEX mutation, NM_000444.6(PHEX):c.2202del [p.Asn736Ilefs*4], in exon 22 (Fig. 1).