Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.
第一作者:
Verena,Schroeder
第一单位:
Laboratory for Thrombosis Research, Department of Clinical Research, Inselspital, University Hospital of Bern, 3010 Bern, Switzerland.
作者:
医学主题词
青少年(Adolescent);成年人(Adult);氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);儿童(Child);儿童, 学龄前(Child, Preschool);因子Ⅷ(Factor VIII);因子ⅩⅢ缺乏(Factor XIII Deficiency);女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);蛋白质构象(Protein Conformation);瑞士(Switzerland)
PMID
16543965
发布时间
2006-11-15
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