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Article

A family with factor-XI deficiency due to a compound heterozygosis between Gln 47 Pro (new mutation) in exon 3 and Leu 619 Pro in exon 15.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2014

Girolami Antonio, Sambado Luisa, Peroni Edoardo, Santarossa Liliana, Lombardi Anna M

Abstract excerpt

A new factor XI mutation (Gln 47 Pro) has been found in combination with another known mutation (Leu 619 Pro) in a female patient with FXI deficiency and a moderate bleeding tendency. FXI activity and antigen in the proposita were 2% activity and less than 5% of normal, respectively. The parents are not consanguineous and are asymptomatic. The father is heterozygote for the new mutation whereas the mother is...

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PMID: 24121361
DOI: 10.1097/MBC.0b013e3283641935

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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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