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. 2008 Dec 24;17(5):554–564. doi: 10.1038/ejhg.2008.231

Figure 6.

Figure 6

(a) Electropherogram of the c.l583 T>A mutation in a relative homozygous for the V528D point mutation in PCDH15 (reference sequence on bottom). (b) Genomic structure of PCDH15 showing mutations associated with non-syndromic hearing loss (DFNB23) and the novel mutation identified in this study (in yellow/bold). (c) Position of the DFNB23 mutations and the novel V528D mutation in PCDH15.