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Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients.

International journal of hematology - 1 Aug 2023

Wang Rui, Jiang Shifeng, Wang Xuefeng, Wei Dongqing, Xu Qin, Wu Wenman

Abstract excerpt

AIM: To structurally and functionally characterize three newly identified F9 missense mutations, C268Y, I316F, and G413V, in Chinese hemophilia B patients. METHODS: FIX mutants were expressed in vitro by transient transfection of Chinese hamster ovary (CHO) cells. One-stage activated partial thromboplastin time (APTT) based assay and enzyme-linked immunosorbent assay (ELISA) were used to measure the coagulation...

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Identifiers

PMID: 37210691
DOI: 10.1007/s12185-023-03616-9

Genes

F9

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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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