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Article

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

Human genetics - 1 Oct 2000

Millar D S, Kemball-Cook G, McVey J H, Tuddenham E G, Mumford A D, Attock G B, Reverter J C, Lanir N, Parapia L A, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell D R, Krawczak M, Cooper D N

Abstract excerpt

Factor VII (FVII) deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which clinical presentation is highly variable and correlates poorly with laboratory phenotype. The FVII (F7) gene was sequenced in 48 unrelated individuals with FVII deficiency,...

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Identifiers

PMID: 11129332
DOI: 10.1007/s004390000373

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11129332-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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