先证者
错义突变
外显子
遗传学
突变
基因
分子生物学
生物
过渡(遗传学)
基因突变
复合杂合度
作者
Baohua Duan,H Wang,Chu H,Xinruo Wang,Qu B,Li D,Yin J,Wenying Kang,Z Wang
出处
期刊:PubMed
日期:2002-03-01
卷期号:23 (3): 117-20
被引量:1
摘要
It is the two novel mutations that results in FXIIIA deficiency. The two mutations of FXIIIA gene may affect its function or alter protein folding. The defective FXIII which is unstable and degraded rapidly in cytoplasm may be the main cause of FXIII deficiency.
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