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Article

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Proceedings of the National Academy of Sciences of the United States of America - 1 Jan 1991

Taylor S A, Deugau K V, Lillicrap D P

Abstract excerpt

Studies have shown that hemophilia B (Christmas disease; factor IX deficiency) results from many different mutations in the factor IX gene, of which greater than 95% are single nucleotide substitutions. This study has identified a previously unreported form of hemophilia B in a patient who was a...

Topics

Base Sequence
Blood Coagulation
Factor IX
Female
Hemophilia A
Hemophilia B
Humans
Male
Molecular Sequence Data
Mosaicism
Mutagenesis, Site-Directed
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Pedigree

Terminator Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 1986380
DOI: 10.1073/pnas.88.1.39
PMCID: PMC50743

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1986380-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).PMID 1986380Read ↗

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