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Article

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.

Human genetics - 1 May 1995

Bidichandani S I, Lanyon W G, Shiach C R, Lowe G D, Connor J M

Abstract excerpt

Haemophilia A is a common X-linked recessive disorder of bleeding caused by deleterious mutations in the gene for clotting factor VIII. The large size of the factor VIII gene, the high frequency of de novo mutations and its tissue-specific expression complicate the detection of mutations. We have used a combination of reverse transcription/polymerase chain reaction (RT-PCR) of ectopic factor VIII transcripts and...

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PMID: 7759074
DOI: 10.1007/BF00223865

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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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Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.PMID 7759074Read ↗

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