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Article

Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2015

Casini A, Sokollik C, Lukowski S W, Lurz E, Rieubland C, de Moerloose P, Neerman-Arbez M

Abstract excerpt

INTRODUCTION: Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen which accumulates and aggregates in the hepatocellular endoplasmic reticulum. Liver disease is variable. AIM: We studied a new Swiss family with fibrinogen Aguadilla. In order to understand the molecular peculiarity of FSD mutations, fibrinogen Aguadilla and the...

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Source

Identifiers

PMID: 25990487
DOI: 10.1111/hae.12719

Genes

FGG
HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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