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Article

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

Human genetics - 1 Apr 1990

Koeberl D D, Bottema C D, Sarkar G, Ketterling R P, Chen S H, Sommer S S

Abstract excerpt

Direct sequencing of the regions of the factor IX gene of likely functional significance was performed in four patients with severe hemophilia B. In two of the individuals, a transition at the dinucleotide CpG caused a nonsense mutation at arginine 333. In the other two individuals, a transition at CpG caused a nonsense mutation at arginine 29. Since these patients are all unrelated, as shown by differing alleles...

Topics

Arginine
Factor IX
Female
Hemophilia B
Humans
Male
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1969838
DOI: 10.1007/BF00195805

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CGN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1969838-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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