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Article

Molecular mechanisms underlying hemophilia A phenotype in seven females.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2009

Pavlova A, Brondke H, Müsebeck J, Pollmann H, Srivastava A, Oldenburg J

Abstract excerpt

BACKGROUND: Hemophilia A (HA) in females is a rare observation. Here we describe various genetic mechanisms that result in phenotypic expression of HA in seven females. METHODS: The F8 gene was examined in all patients and relatives by direct sequencing. Multiplex ligation-dependent probe amplification (MLPA) was performed for large deletion screening. X chromosome inactivation was studied by PCR analysis of a...

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Identifiers

PMID: 19302446
DOI: 10.1111/j.1538-7836.2009.03346.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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