Identification of double heterozygous -α 4.2Ⅰ /-α 4.2Ⅱ using third-generation sequencing.

Liang LiangYongjun XiaoWeilin GuoTiantian XieLihong ZhengYou-Qiong Li

Published in: Hematology (Amsterdam, Netherlands) (2023)

/) is easily misdiagnosed as 4.2 kb homozygous using Gap-PCR and MLPA. The TGS enables the identification of the two different 4.2 kb deletion sub-types.

Keyphrases

bioinformatics analysis
early onset
single cell