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Article

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.

BMC genomics - 1 Mar 2024

Ye Luyi, Wang Chen, Li Aijing, Li Minghao, Pi Yan, Yang Jingmin, Zhu Ziyan, Lu Daru

Abstract excerpt

BACKGROUND: Krüppel-like factor 1 (KLF1), a crucial erythroid transcription factor, plays a significant role in various erythroid changes and haemolytic diseases. The rare erythrocyte Lutheran inhibitor (In(Lu)) blood group phenotype serves as an effective model for identifying KLF1 hypomorphic and loss-of-function variants. In this study, we aimed to analyse the genetic background of the In(Lu) phenotype in a...

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Identifiers

PMID: 38429690
DOI: 10.1186/s12864-024-10148-x
PMCID: PMC10908068

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