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Article

Clinical and biochemical characterization of antithrombin III Franconville, a variant with Pro 41 Leu mutation.

British journal of haematology - 1 Jun 1990

de Roux N, Chadeuf G, Molho-Sabatier P, Plouin P F, Aiach M

Abstract excerpt

We describe a familial study of AT III, a type III antithrombin III variant which was identified in the propositus by gene analysis as Pro 41 Leu heterozygous mutation. None of the four members of the family who presented with defective heparin cofactor (hep-cofactor) activity, and therefore prob...

Topics

Adult
Antithrombin III
Chemical Phenomena
Chemistry
Chromatography, Affinity
Chromatography, Ion Exchange
Dipeptides
Female
Humans
Middle Aged
Mutation
Pedigree

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Identifiers

PMID: 2372510
DOI: 10.1111/j.1365-2141.1990.tb02653.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2372510-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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