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. 2012 Dec 8;66(3):178–186. doi: 10.1136/jclinpath-2012-201200

Figure 4.

Figure 4

Schemes of mutation patterns of 19 Asian families with Birt–Hogg–Dubé syndrome (BHD). The responsible mutation sites of the 19 Asian families are indicated. F6 is excluded because genetic testing was done in another institute. F5 is Taiwanese and the others are Japanese families with BHD. The most frequent mutations are 4 bp deletion in exon 13 (c.1533_1536delGATG) and duplication of cytosine in exon 11 (c.1285dupC).