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Article

Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

Human molecular genetics - 1 Sept 1993

Takamiya O, Kemball-Cook G, Martin D M, Cooper D N, von Felten A, Meili E, Hann I, Prangnell D R, Lumley H, Tuddenham E G

Abstract excerpt

Five unrelated subjects with dysfunctional coagulation factor VII (FVII) were studied in order to identify missense mutations affecting function. Exons 2 to 8 and the intron-exon junctions of their FVII genes were amplified from peripheral white blood cell DNA by PCR and screened by SSCP analysis. DNA fragments showing aberrant mobility were sequenced. The following mutations were identified: in case 1 (FVII:C <...

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Identifiers

PMID: 8242057
DOI: 10.1093/hmg/2.9.1355

Genes

EGF

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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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