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

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

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

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 chronic liver disease.

Original languageEnglish
Pages (from-to)396-398
Number of pages3
JournalJournal of Pediatrics
Volume148
Issue number3
DOIs
Publication statusPublished - Mar 2006

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Fibrinogen
Liver Diseases
Chronic Disease
Mutation
Genes
Liver

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation. / Francalanci, Paola; Santorelli, Filippo M.; Talini, Ilaria; Boldrini, Renata; Devito, Rita; Camassei, Francesca Diomedi; Maggiore, Giuseppe; Callea, Francesco.

In: Journal of Pediatrics, Vol. 148, No. 3, 03.2006, p. 396-398.

Research output: Contribution to journalArticle

Francalanci, Paola ; Santorelli, Filippo M. ; Talini, Ilaria ; Boldrini, Renata ; Devito, Rita ; Camassei, Francesca Diomedi ; Maggiore, Giuseppe ; Callea, Francesco. / Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation. In: Journal of Pediatrics. 2006 ; Vol. 148, No. 3. pp. 396-398.
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