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. 1989 Apr;44(4):567–569.

Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.

S H Chen 1, C R Scott 1, J Schoof 1, E W Lovrien 1, K Kurachi 1
PMCID: PMC1715568  PMID: 2929599

Abstract

Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp fragment in the first part of exon VIII of the factor IX gene was amplified and sequenced. A single-base-pair substitution of C----T at the nucleotide sequence 30875 was found which resulted in a nonsense mutation (TGA) and terminated the protein synthesis of factor IX at amino acid residue 252. The single-base change occurred as a classic CG dinucleotide alteration to TG (or CA), a common mechanism for point mutations in mammals.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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