Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
-
Zhonghua Xue Ye Xue Za Zhi · Jun 2012
Case Reports[Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain].
To analyze the phenotype, genotype and function in four Chinese pedigrees with inherited dysfibrinogenemia. ⋯ The four probands with dysfibrinogenemia were caused by the mutations of Aα chain Arg16His or Arg16Cys. Mutation of the fibrinogen induced dysfunction of plasma fibrinogen.