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Article

The rates and patterns of deletions in the human factor IX gene.

American journal of human genetics - 1 Feb 1994

Ketterling R P, Vielhaber E L, Lind T J, Thorland E C, Sommer S S

Abstract excerpt

Deletions are commonly observed in genes with either segments of highly homologous sequences or excessive gene length. However, in the factor IX gene and in most genes, deletions (of > or = 21 bp) are uncommon. We have analyzed DNA from 290 families with hemophilia B (203 independent mutations) and have found 12 deletions > 20 bp. Eleven of these are > 2 kb (range > 3-163 kb), and one is 1.1 kb. The junctions of...

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PMID: 8304338
PMCID: PMC1918149

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