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Article

Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.

British journal of haematology - 1 Feb 1995

Chen S H, Schoof J M, Weinmann A F, Thompson A R

Abstract excerpt

Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutations in 7 exons and 5' and 3' non-coding regions were positive.

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Identifiers

PMID: 7873393
DOI: 10.1111/j.1365-2141.1995.tb03319.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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.PMID 7873393Read ↗

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Twenty-five novel mutations of the factor IX gene in haemophilia B.Semantic proximity Read ↗

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.Semantic proximity Read ↗

Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample.Semantic proximity Read ↗

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