Genetic analysis in a female manifesting haemophilia B.
case_report · Level V
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- Record sourced from PubMed, PMID 7824420.
- Also identified by PMC identifier 2397803.
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Abstract
A 5 year old female child presented with a psoas haematoma as the first manifestation of haemophilia B. Molecular genetic studies were performed to investigate the inheritance of the disorder and the mechanisms by which females may express the haemophilia B phenotype are discussed.
Medical subject headings
- DNA
- Hemophilia B
- Point Mutation