目的对一个遗传性异常纤维蛋白原血症家系进行表型和基因型分析。
Objective To analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
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。
Conclusion Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.
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