Title: Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.
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.
Publication Year: 1989
Publication Date: 1989-04-01
Language: en
Type: article
Indexed In: ['pubmed']
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Cited By Count: 19
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