Genetic Analysis of an Inherited Afibrinogenemia Family Caused by a Novel Frameshift Mutation in FGA 一个新的FGA突变导致的遗传性无纤维蛋白原血症家族的分析
Inherited Afibrinogenemia Caused by Compound Heterozygous Mutations in the Β β-Chain of Fibrinogen 纤维蛋白原Ββ-链复合杂合突变导致的遗传性无纤维蛋白原血症
Conclusion Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene. 结论纤维蛋白原FGA基因复合杂合缺失是引起该家系先证者无纤维蛋白原血症的原因。
The results showed that phenotype of the proband was diagnosed as afibrinogenemia. 结果表明:先证者表型诊断为无纤维蛋白原血症;