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Figure 6 | BMC Medical Genetics

Figure 6

From: Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Figure 6

Distribution of PKD1 mutations identified in Thai patients with ADPKD. Diagrams of polycystin-1 (upper) and PKD1 gene (lower) show domain structures and coding regions for the protein domains, respectively. Seven PKD1 mutations (above polycystin-1) were identified by our groups, while the other eighteen (under polycystin-1) were also reported in Thai patients by Phakdeekitcharoen et al. [31, 32]. Majority of the mutations locate in the regions encoding PKD repeats, REJ and the beginning TM domains.

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