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Article

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.

Blood - 15 Jul 2003

Borensztajn Keren, Sobrier Marie-Laure, Fischer Anne-Marie, Chafa Ouerdia, Amselem Serge, Tapon-Bretaudiere Jacqueline

Abstract excerpt

In a patient with lethal factor VII (FVII) deficiency, 2 homozygous nucleotide substitutions were identified in the F7 gene: a IVS7+2T>G transversion involving the IVS7 donor splice site, followed by a mutation at nucleotide 10588 that would result in a missense variation (Arg224Gln). The mutated splice site, located within the first repeat of a minisatellite, is followed by a variable number of pseudo-sites,...

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Source

Identifiers

PMID: 12676783
DOI: 10.1182/blood-2002-09-2951

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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