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Article

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

American journal of human genetics - 1 Nov 1990

Bottema C D, Ketterling R P, Yoon H S, Sommer S S

Abstract excerpt

To begin documenting the pattern of germ-line mutations in different human races, we have delineated the mutation in nine Korean families with hemophilia B by direct genomic sequencing of the regions of likely functional significance in the factor IX gene. An evaluation of these mutations in combination with previously described point mutations in the factor IX gene of Asians indicates that transitions...

Topics

Alleles
Asian People
Base Sequence
Factor IX
Female
Genetic Carrier Screening
Haplotypes
Hemophilia B
Humans
Molecular Sequence Data
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

White People

Source

Open in PubMed Open full text

Identifiers

PMID: 2220823
PMCID: PMC1683691

Genes

ACD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2220823-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.PMID 2220823Read ↗

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

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.Semantic proximity Read ↗

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.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 ↗

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

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.Semantic proximity Read ↗

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Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.Semantic proximity Read ↗

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

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