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Article

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

Genomics - 1 Aug 1991

Ketterling R P, Bottema C D, Phillips J A, Sommer S S

Abstract excerpt

In our sample of 160 consecutive Caucasian hemophiliacs, 14 (9%) had a G----A transition at bp 10,430 that substitutes serine for glycine 60 in the first EGF domain of the factor IX molecule. Each of these hemophiliacs had clinically mild disease. Haplotype data and familial pedigrees indicate that 12 of these hemophiliacs are likely to be related to a common ancestor. The 13th and 14th patients possess different...

Topics

Alleles
Amino Acid Sequence
Europe
Factor IX
Haplotypes
Hemophilia A
Humans
Mutation
Ontario
United States
White People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1916816
DOI: 10.1016/0888-7543(91)90207-u

Genes

EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1916816-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States.PMID 1916816Read ↗

Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect.Semantic proximity Read ↗

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?Semantic proximity Read ↗

T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.Semantic proximity Read ↗

Origin of Swedish hemophilia B mutations.Semantic proximity Read ↗

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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 ↗

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 ↗

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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 ↗

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