Hereditary protein C deficiency caused by novel compound heterozygous mutants in a Chinese pedigree: A case report

We report a pedigree who suffered from the hereditary PC deficiency with compound heterozygous mutants; genetic analysis revealed compound heterozygous mutations of 262  G > T(Asp88Tyr) and 400 + 5G > A that were identified in the proband; moreover, Asp88Tyr and 400 + 5G > A were also detected in the father and the mother, respectively.

Source: Transfusion and Apheresis Science - September 4, 2019 Category: Hematology Authors: Yi Li, Ruimin Cai, Wenyang Wang, Qiang Feng, Xue Gao, Ping Liu, Meirong Liu, Chunling Qi Source Type: research