Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.

Jing LiYani LinLong ChenLi QinHao TanJunyan ZouDonglei ZhangYanbo NieGuangjuan WangHong ZhangEnbin LiuXuejing ChenKun Ru

Published in: International journal of laboratory hematology (2020)

The detection of PIGA mutations and additional variants by targeted NGS not only shed light on the genetic characteristics of PNH, but also provided an important reference value in the diagnosis of PNH at molecular level.

Keyphrases

copy number
genome wide
atrial fibrillation
blood pressure
dna methylation
obstructive sleep apnea
cancer therapy
loop mediated isothermal amplification
sleep quality
gene expression
real time pcr
label free
single molecule
depressive symptoms
catheter ablation
bioinformatics analysis
sensitive detection