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Article

Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis.

Human genetics - 1 Feb 1992

Fraser B M, Poon M C, Hoar D I

Abstract excerpt

The molecular characterization of two haemophilia B defects, Calgary 1 and Calgary 2, was carried out using polymerase chain reaction (PCR) amplification and direct dideoxy sequencing. It had been previously shown that the Calgary 1 mutation affects the 5' TaqI restriction site of exon VIII, whereas Calgary 2 involves the loss of the 3' TaqI site of exon VIII of the factor IX gene. Sequencing data has now...

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PMID: 1740319
DOI: 10.1007/BF00215677

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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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Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis.PMID 1740319Read ↗

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