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. 2005 Jul 13;43(3):225–231. doi: 10.1136/jmg.2005.034058

graphic file with name mg34058.f1.jpg

Figure 1 (A) Pedigree showing the clinically examined members of the family. The full pedigree is not shown. (B) Chromatogram showing the c.1322T>C mutation. (C) Digestion with HpaII results in a 379 bp fragment in unaffected subjects, whereas heterozygous mutation carriers in addition have two additional fragments of 124 and 255 bp.