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Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr).

Thrombosis and haemostasis - 1 Dec 2003

Lombardi Anna Maria, Sartori Maria Teresa, Cabrio Laura, Fadin Mariangela, Zanon Ezio, Girolami Antonio

Abstract excerpt

We investigated a family with prekallikrein deficiency, using both standard coagulation tests and molecular biology techniques. The propositus was found to be a compound heterozygote for a Trp383 stop codon and a Cys529Tyr point mutation. The former mutation was located in exon 11, the latter in exon 14. The propositus inherited the first defect from his father and the second from his mother. Both parents had...

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Identifiers

PMID: 14652634
DOI: 10.1160/TH03-05-0275

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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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