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

doi:10.1111/j.1600-0609.1991.tb01568.x

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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, respecti...

Topics

Adult
Alleles
Blotting, Southern
Chromosome Deletion
DNA
DNA Restriction Enzymes
Exons
Factor IX
Female
Genetic Carrier Screening
Genetic Markers
Hemophilia A
Humans
Male
Pedigree
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
X Chromosome

Source

Open in PubMed

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1683292-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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