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Article

Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample.

European journal of human genetics : EJHG - 1 Jan 1993

Ghanem N, Costes B, Martin J, Vidaud M, Rothschild C, Foyer-Gazengel C, Goossens M

Abstract excerpt

Full scanning of the factor IX gene by means of denaturing gradient gel electrophoresis enabled us to determine the molecular defects in 48 out of 49 hemophiliacs and to evaluate the spectrum of factor IX mutations in the French population. Our results further document the high molecular heterogeneity of the disease and the efficiency of this rapid screening method for disease-causing mutations. This direct...

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Identifiers

PMID: 8055323
DOI: 10.1159/000472401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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