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. 2017 Nov 30;10(1):63–75. doi: 10.15252/emmm.201708168

Figure EV1. Identification of the p.R119C mutation of THPO .

Figure EV1

  1. Family pedigree indicating the genotype and phenotype of the family members. “+” and “−” indicate the wild‐type and the mutant (c.355C>T; p.R119C) allele, respectively. Different symbols indicate the presence of severe thrombocytopenia, anemia, neutropenia, or infections, as shown in the figure.
  2. Electropherogram showing the homozygous c.355C>T mutation in the proband.