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Article

Haemophilia B Brandenberg-type promoter mutation.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 1999

Heit J A, Ketterling R P, Zapata R E, Ordonez S M, Kasper C K, Sommer S S

Abstract excerpt

We report the second confirmed case of the haemophilia B 'Brandenberg' phenotype. At the time of testing, patient HB530 was a 17-year-old post-puberty male with a persistent, clinically severe bleeding disorder and markedly reduced plasma procoagulant factor IX activity (< 1%). Sequencing studies revealed a G-->A transition at bp - 26 within the promoter region of the factor IX gene. This case report confirms the...

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Identifiers

PMID: 10215951
DOI: 10.1046/j.1365-2516.1999.00193.x

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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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