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Updated: Jun 30, 2025

Helical Organization of Blood Coagulation Factor VIII on Lipid Nanotubes
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整个F8基因测序确定了严重血友病A残余未解决的患者的致病性结构变异

Yohann Jourdy1, Nicolas Chatron2, Mathilde Frétigny3

  • 1Hospices Civils de Lyon, Groupe Hospitalier Est, Service d'hématologie biologique, Bron, France; Université Claude Bernard Lyon 1, UR4609 Hémostase et thrombose, Lyon, France.

Journal of thrombosis and haemostasis : JTH
|March 14, 2024
PubMed
概括

基因测序在所有以前未被诊断的严重血友病A病例中确定了F8结构变异. 全F8基因测序在标准方法失败时有效诊断血友病A.

关键词:
F8 F8 F8 F8 F8 F8 F8 F8 F8 F8 F8 F8 F8 F8 F8第八个因子的因素.基因重组是一种基因重组.血友病A型 血友病A型 血友病A型突变是一种突变.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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