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Article

Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene.

Thrombosis and haemostasis - 1 Jun 2005

Ding Qiulan, Wu Wenman, Fu Qihua, Wang Xuefeng, Hu Yiqun, Wang Hongli, Wang Zhenyi

Abstract excerpt

Low FVII coagulant activity (FVII:C 8.2%) and antigen level (FVII:Ag 34.1%) in a 46-year-old Chinese male led to a diagnosis of coagulation factor VII (FVII) deficiency. Compound heterozygous mutations were identified in his F 7 gene:a G to A transition in the 5' donor splice site of intron 1a (IVS1a+5g>a) and a T to G transition at the nucleotide position 10961 in exon 8, resulting in a His to Gln substitution...

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Identifiers

PMID: 15968391
DOI: 10.1160/TH04-04-0220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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