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Lollipop mutation diagram of the study population. All mutations shown in this study were at DNA-binding domain. Except for one patient with nonsense mutation in codon 213, other 13 patients showed missense mutations. A138V (n=2), P190L (n=2), and R273H (n=2) were repeated, and two patients with A138V mutation were sisters. A, alanine; H, histidine; L, leucine; P, proline; R, arginine; T, tryptophan; V, valine.
