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Article

Carrier analysis of a moderately affected haemophilia B family.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2000

Holoshitz N, Kurachi K, Kurachi S

Abstract excerpt

Here we report the successful genetic diagnosis of a pregnant caucasian female patient whose family has a history of moderate haemophilia B. While restriction fragment length polymorphism (RFLP) analysis was not informative, nucleotide sequencing of the factor IX genes of the patient's family members determined that her mother and one of her two sisters were carriers of the mutation C31008T, which causes a...

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Identifiers

PMID: 11122404
DOI: 10.1046/j.1365-2516.2000.00452.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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