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Family trees. (A–F) Family trees of families that carried p.Ile215Thr. In the picture, we indicated by arrows the two probands, IV.2 heterozygote, and IV.4 homozygote for the target mutation. As depicted by the doubled lines, two marriages between relatives occurred in this family, and only one homozygote was generated (*). (G) Family tree of the only family carrying p.Gly241Val.
