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Table 1 Characteristics and laboratory test results of the patient

From: Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

IndividualAgeMutation typePT (s)APTT (s)FXIII Ag (%)Urea testClinical information
Proband27Homozygote12.130.7< 2.4↓Clot lysis within 2 hBleeding diathesis
Mother53Heterozygote11.935.064.5↓NegativeAsymptomatic
Father55Heterozygote11.934.460.9↓NegativeAsymptomatic
  1. Reference ranges: PT, 10.0–16.9s; APTT, 20.0–43.5s; FXIIIAg (%), 75–
  2. 155%
  3. Abbreviations: APTT activated partial thromboplastin time; PT prothrombin time; FXIII Ag, antigen of coagulation factor XIII
  4. Note: ↓, reduced