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Article

Mutations in haemophilia A.

British journal of haematology - 1 Mar 1993

Schwaab R, Oldenburg J, Tuddenham E G, Brackmann H H, Olek K

Abstract excerpt

In the present study DNA from 281 unrelated haemophilia A patients including 15 inhibitor patients has been analysed by Southern blotting technique. Using various restriction enzymes, cloned factor VIII cDNA probes and genomic fragments we have identified 14 mutations. Six of the mutations are novel partial factor VIII gene deletions. One deletion affects exon 1, two deletions concern exon 6, another deletion, of...

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Identifiers

PMID: 8485051
DOI: 10.1111/j.1365-2141.1993.tb04670.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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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