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Article

Genetic diagnosis in hemophilia and von Willebrand disease.

Blood reviews - 1 Jan 2017

Swystun Laura L, James Paula D

Abstract excerpt

Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal...

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Identifiers

PMID: 27596108
DOI: 10.1016/j.blre.2016.08.003

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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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