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Article

A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]).

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2007

Angles-Cano Eduardo, Mathonnet Florence, Dreyfus Marie, Claeyssens Ségolène, de Mazancourt Philippe

Abstract excerpt

The clinical features and molecular biology data of a case of afibrinogenemia are reported. The propositus is a 14-year-old girl who suffered several bleeding manifestations that were successfully treated with fibrinogen infusion. The afibrinogenemia results from compound heterozygosity for two mutations on the Aalpha chain gene (c.[4110delA]+[3200+1G>T]). The first mutation is a novel frameshift mutation...

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Identifiers

PMID: 17179831
DOI: 10.1097/MBC.0b013e328010bd16

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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