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Article

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

Human genetics - 1 Jun 1991

Chen S H, Zhang M, Lovrien E W, Scott C R, Thompson A R

Abstract excerpt

Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX genes of patients from 50 distinct families with hemophilia B. These include 30 mutations in 29 families not previously reported by us; of these, 12 are novel, i.e.,...

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PMID: 2066105
DOI: 10.1007/BF00204177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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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.PMID 2066105Read ↗

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 ↗

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.Semantic proximity Read ↗

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.Semantic proximity Read ↗

An A to T transversion at position -5 of the factor IX promoter results in hemophilia B.Semantic proximity Read ↗

Haemophilia B: database of point mutations and short additions and deletions, 7th edition.Semantic proximity Read ↗

The rates and patterns of deletions in the human factor IX gene.Semantic proximity Read ↗

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

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.Semantic proximity Read ↗

Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.Semantic proximity Read ↗

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Semantic proximity Read ↗

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Semantic proximity Read ↗

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