先证者
血友病A
外显子组测序
医学
遗传学
桑格测序
错义突变
遗传咨询
基因检测
遗传分析
外显子
表型
生物信息学
血友病
DNA测序
生物
基因
突变
作者
Shi‐Min Yuan,Liang Hu,Jim Zhong,Xiao Hu,Xiaomeng Zhao,Zhenxing Wan,Sicong Zeng,Wenbin He,Feng Gu,Shuiqian Wang,Guangxiu Lu,Ge Lin,Juan Du
出处
期刊:Haemophilia
[Wiley]
日期:2024-12-04
卷期号:31 (1): 148-155
被引量:1
摘要
Our findings provide novel insights into the genetic aetiology of HA and emphasise the importance of a definitive diagnosis in guiding genetic counselling and personalised reproductive interventions for affected individuals and their families.
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