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. 1988 Apr;42(4):581–584.

An insertion within the factor IX gene: hemophilia BEl Salvador.

S H Chen 1, C R Scott 1, J R Edson 1, K Kurachi 1
PMCID: PMC1715227  PMID: 2831715

Abstract

A patient with moderate to severe hemophilia B has been found to have a large insertion within his factor IX gene. The site of insertion is located in a DNA segment of approximately 0.8 kb between exon IV and an EcoRI site within intron D. The size of the DNA insertion is approximately 6 kb, and it contains at least two TaqI sites, two EcoRI sites, and one HindIII site. The insert probably originates from outside the FIX gene and does not represent an internal duplication. We propose that this abnormal FIX gene be called FIX El Salvador in recognition of the birthplace of the patient.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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