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Article

Role of the geneticist in testing and counseling for inherited thrombophilia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Reich Laura M, Bower Matthew, Key Nigel S

Abstract excerpt

Within the past decade, the identification of two mutations that are relatively prevalent among the white population (the factor V Leiden and prothrombin G20210A gene mutations) has paved the way for a number of large cohort studies that have greatly advanced our understanding of the pathogenesis of venous thromboembolism (VTE). VTE is clearly a multigenic disorder, with well-characterized examples of gene-gene...

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PMID: 12792420
DOI: 10.1097/01.GIM.0000067987.77803.D0

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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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