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Article

Genetic variant detection in a South African haemophilia B population.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2024

Bester Chené, Kloppers Jean F, van Rensburg Walter J Janse

Abstract excerpt

BACKGROUND: Haemophilia B is characterised by a deficiency of factor IX (FIX) protein due to genetic variants in the FIX gene (F9). Genetic testing may have a vital role in effectively managing haemophilia B. However, in many developing countries, comprehensive genetic variant detection is unavailable. This study aimed to address the lack of genetic data in our country by conducting genetic variant detection on...

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PMID: 38462783
DOI: 10.1111/hae.14978

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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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