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Article

Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency.

Journal of pediatric hematology/oncology - 1 Nov 2021

Ma Cui, Wang Yue, Gao Haidi, Xue Lu, Wu Shuangshuang, Xu Xijing, Zhang Huichao, Li Chunhuai

Abstract excerpt

Factor VII (FVII) deficiency is a rare bleeding disorder normally caused by homozygous and compound heterozygous mutations in the F7 gene. Whole-exome sequencing was performed to identify F7 mutations in 3 individuals from 2 unrelated families who were diagnosed with FVII deficiency. Four compound heterozygous mutations were identified and validated in these 3 probands with FVII deficiency. Among the 4 identified...

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PMID: 33480651
DOI: 10.1097/MPH.0000000000002057

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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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