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Article

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Nucleic acids research - 25 Sept 1991

Tuddenham E G, Cooper D N, Gitschier J, Higuchi M, Hoyer L W, Yoshioka A, Peake I R, Schwaab R, Olek K, Kazazian H H

Abstract excerpt

Mutations at the factor VIII gene locus causing Haemophilia A have now been identified in many patients from many ethnic groups. Earlier studies used biased methods which detected repetitive mutations at a few CG dinucleotides. More recently rapid gene scanning methods have uncovered an extreme diversity of mutations. Over 80 different point mutations, 6 insertions, 7 small deletions, and 60 large deletions have...

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Identifiers

PMID: 1923751
DOI: 10.1093/nar/19.18.4821
PMCID: PMC328775

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