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Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene.

Thrombosis research - 1 Aug 1991

Matsushita T, Tanimoto M, Yamamoto K, Sugiura I, Takamatsu J, Kamiya T, Saito H

Abstract excerpt

Rapid direct detection of point mutations in hemophilia B kindreds was performed by analyzing the restriction fragments of the factor IX gene amplified by polymerase chain reaction (PCR). The family members of the two patients, HB 5 and HB 6, whose mutant factor IX gene had previously been defined by sequence analysis, were examined in this study. Since there are no restriction endonucleases available for...

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PMID: 1683496
DOI: 10.1016/0049-3848(91)90138-m

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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