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Article

Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome.

European journal of haematology - 1 Oct 1991

Kling S, Coffey A J, Ljung R, Sjörin E, Nilsson I M, Holmberg L, Giannelli F

Abstract excerpt

The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her other factor IX...

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Identifiers

PMID: 1683292
DOI: 10.1111/j.1600-0609.1991.tb01568.x

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Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome.PMID 1683292Read ↗

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