Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375ARG→TRP gene mutation

被引：28

作者：

Francalanci, P

Santorelli, FM

Talini, I

Boldrini, R

Devito, R

Camassei, FD

Maggiore, G

Callea, F

机构：

[1] Childrens Hosp Bambino Gesu, Dept Pathol, I-00165 Rome, Italy

[2] Childrens Hosp Bambino Gesu, Dept Mol Med, I-00165 Rome, Italy

[3] Univ Pisa, Dept Procreat & Dev Med, Pisa, Italy

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 03期

关键词：

D O I：

10.1016/j.jpeds.2005.10.007

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report hypofibrinogeneinia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease.. p Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C > T; pArg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.

引用

页码：396 / 398

页数：3

共 5 条

[1] Novel fibrinogen γ375 Arg→Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia [J].