Maternal duplication associated with gene deletion in sporadic hemophilia.

Abstract

Sporadic occurrences of X-linked disorders can give insights into mutagenesis in man. In a case of sporadic hemophilia, associated with a partial deletion of the factor VIII gene, an unexpected inheritance pattern of gene rearrangements was observed. The factor VIII gene was found to be partially duplicated in the hemophiliac's mother. A pedigree analysis… (More)

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Cite this paper

@article{Gitschier1988MaternalDA, title={Maternal duplication associated with gene deletion in sporadic hemophilia.}, author={Jane M Gitschier}, journal={American journal of human genetics}, year={1988}, volume={43 3}, pages={274-9} }