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Article

A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.

British journal of haematology - 1 Mar 1999

Hinks J L, Winship P R, Makris M, Preston F E, Peake I R, Goodeve A C

Abstract excerpt

Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effective procedure for screening the factor IX (FIX) gene by detecting 10/10 previously known FIX gene mutations. The FIX genes of a further 11 haemophilia B patients with unknown mutations were then screened and an abnormal CSGE profile was identified in all cases. Subsequent DNA sequencing demonstrated one of these to be a novel mutation...

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Source

Identifiers

PMID: 10192459
DOI: 10.1046/j.1365-2141.1999.01274.x

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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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