Mutation detected from the pedigree analysis of the 325 father-daughter-mother trios and the 286 mother-son duos. LiuQiu-Ling WangJing-Zhou QuanLi ZhaoHu WuYe-Da HuangXiao-Ling LuDe-Jian 2013 *<p>: In the genotypes of children, alleles with the mutation were denoted in boldface.</p>