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Article

Whole-exome sequencing reveals a novel frameshift mutation in a consanguineous family with a hereditary coagulation factor XII deficiency.

Clinical biochemistry - 1 Aug 2023

Ren Shuting, Cai Dongping, Xiao Li, Shen Hongshi, Ren Chuanlu

Abstract excerpt

BACKGROUND AND AIMS: We aimed to elucidate a hereditary mutation of coagulation factor XII (FXII) in a consanguineous Chinese family. METHODS: Mutations were investigated using Sanger and whole-exome sequencing. FXII (FXII:C) activity and FXII antigen (FXII:Ag) were assessed using clotting assays and ELISA, respectively. Gene variants were annotated and the likelihood that amino acid mutations would affect...

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PMID: 37391120
DOI: 10.1016/j.clinbiochem.2023.110602

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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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