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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Fig. 1

Sanger validation of DUOX2 compound heterozygous mutations (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln), SLC26A4 (ENST00000265715:c.1343C > T, p.Ser448Leu), GJB2 (ENST00000382844:c.368C > A, p.Thr123Asn), and SCARB2 (ENST00000264896:c.914C > T, p.Thr305Met) heterozygous mutations. The arrow shows the site of the changes

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