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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

Fig. 2

Variant analysis of Families 1–9. A In proband 1, a synonymous variant c.591A > G(p.Gln197Gln) was identified in genomic DNA. B Sanger sequencing at the mRNA level indicated that part of exon 5 was deleted, caused by variant c.591A > G, leading to a frameshift inducing a premature stop codon (p.Gly196Alafs*16). C In proband 2, Sanger sequencing confirmed that c.1661_1726del did not induce alternative splicing. D–J Sanger sequencing results of probands 3–9

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