Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
作者信息
Francalanci Paola, Santorelli Filippo M, Talini Ilaria, Boldrini Renata, Devito Rita, Camassei Francesca Diomedi, Maggiore Giuseppe, Callea Francesco
机构信息
Department of Pathology, Children's Hospital Bambino Gesù, Rome, Italy.
出版信息
J Pediatr. 2006 Mar;148(3):396-8. doi: 10.1016/j.jpeds.2005.10.007.
PMID:16615976
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.
摘要
Zotero 插件