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Article

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.

The Journal of pediatrics - 1 Mar 2006

Francalanci Paola, Santorelli Filippo M, Talini Ilaria, Boldrini Renata, Devito Rita, Camassei Francesca Diomedi, Maggiore Giuseppe, Callea Francesco

Abstract excerpt

We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chr...

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PMID: 16615976
DOI: 10.1016/j.jpeds.2005.10.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16615976-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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