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Article

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.

Human molecular genetics - 1 Mar 1993

Gostout B, Vielhaber E, Ketterling R P, Yoon H S, Bottema C D, Kasper C K, Koerper M A, Sommer S S

Abstract excerpt

DNA samples of patients from around the world have been sequenced to precisely define the mutations in the factor IX gene resulting in hemophilia B. This study compares the patterns of independent mutation between 127 Caucasian and 44 non-Caucasian patients with hemophilia B. Caucasians and non-Caucasians are found to have similar patterns of transitions and transversions (both at CpG and at non-CpG sites) as...

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Identifiers

PMID: 8499919
DOI: 10.1093/hmg/2.3.293

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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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.PMID 8499919Read ↗

Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.Semantic proximity Read ↗

Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.Semantic proximity Read ↗

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.Semantic proximity Read ↗

Identification of a novel factor XI gene mutational event in a Dutch Caucasian family with inherited factor XI deficiency.Semantic proximity Read ↗

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.Semantic proximity Read ↗

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.Semantic proximity Read ↗

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.Semantic proximity Read ↗

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.Semantic proximity Read ↗

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States.Semantic proximity Read ↗

"Cryptic" dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations.Semantic proximity Read ↗

Somatic mosaicism in hemophilia A: a fairly common event.Semantic proximity Read ↗

Factor IX polypyrimidine tract mutation analysis using mRNA from peripheral blood leukocytes.Semantic proximity Read ↗

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