Current challenges in hemophilia genetics and how they can be overcome

被引：1

作者：

Johnsen, Jill M. ^{[1
,2
,3
,4
]}

机构：

[1] Univ Washington, Dept Med, Seattle, WA 98195 USA

[2] Univ Washington, Inst Stem Cell & Regenerat Med, Seattle, WA 98195 USA

[3] Univ Washington, Ctr Cardiovasc Biol, Seattle, WA 98195 USA

[4] Washington Ctr Bleeding Disorders, Seattle, WA 98195 USA

来源：

NATURE CARDIOVASCULAR RESEARCH | 2022年 / 1卷 / 10期

关键词：

VARIANTS;

D O I：

10.1038/s44161-022-00141-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genomic sequencing in hemophilia is a high-yield test and clinically useful for diagnosis, assessing the risk of developing neutralizing antibodies ('inhibitors') against the affected coagulation factor, pregnancy and neonatal management, and family counseling. New genomic technologies can detect several types of DNA change with high sensitivity. Systematic collection of genotype-phenotype data is important to better understand the genetics of hemophilia.

引用

页码：867 / 868

页数：2

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