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Article

A novel homozygous splice-site mutation of JK gene leads to Jk(a-b-) phenotype.

Transfusion medicine (Oxford, England) - 1 Feb 2024

Yang Jiaxuan, Ni Lina, Li Aijing, Li Minghao, Ruan Shulin, Xiang Dong, Zhu Ziyan, Ye Luyi

Abstract excerpt

OBJECTIVES: This study aimed to investigate the molecular mechanism of the Jk(a-b-) phenotype in a Chinese transfusion patient. BACKGROUND: Many different mutation types relating to Jk(a-b-) phenotype have been reported. However, the splice-site mutation is relatively rare and the related functional verification is lacking. MATERIALS AND METHODS: In this study, the blood sample was collected from a transfusion...

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PMID: 37950522
DOI: 10.1111/tme.13016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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