TY - JOUR
T1 - Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation
AU - Francalanci, Paola
AU - Santorelli, Filippo M.
AU - Talini, Ilaria
AU - Boldrini, Renata
AU - Devito, Rita
AU - Camassei, Francesca Diomedi
AU - Maggiore, Giuseppe
AU - Callea, Francesco
PY - 2006/3
Y1 - 2006/3
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jpeds.2005.10.007
DO - 10.1016/j.jpeds.2005.10.007
M3 - Article
C2 - 16615976
AN - SCOPUS:33645963714
VL - 148
SP - 396
EP - 398
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 3
ER -