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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 somatic mosaic for a guanine-to-cytosine transversion at nucleotide 31,170 in the factor IX gene. This point mutation...

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Identifiers

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

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