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Article

Identification of two novel mutations in non-Jewish factor XI deficiency.

British journal of haematology - 1 Aug 1995

Imanaka Y, Lal K, Nishimura T, Bolton-Maggs P H, Tuddenham E G, McVey J H

Abstract excerpt

We have studied two heterozygous unrelated CRM- non-Jewish FXI-deficient patients. Neither of the patients carries a previously described mutation. Their FXI genes were screened by SSCP analysis following PCR amplification of each exon and the flanking intronic sequences. DNA fragments showing aberrant mobility were cloned and sequenced. The following mutations were identified: in case 1, a T to G transition in...

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Identifiers

PMID: 7669672
DOI: 10.1111/j.1365-2141.1995.tb05215.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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Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.Semantic proximity Read ↗

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Characterization of seven novel mutations causing factor XI deficiency.Semantic proximity Read ↗

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