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Sequencing analysis. (A) Mutation was identified by whole exome sequencing, suggested a heterozygous c.919C>T (p.Q307X) variation of ATP-binding cassette subfamily D member 1 (red box). (B) SNP haplotype linkage analysis of the family. The numbers represent the relative distance in kb up-(blue) and downstream (orange) of gene. (C) Mutation was positive in the patient III1 and mother II1, but not in I2 or II2, as shown by Sanger sequencing.
