|
KMID : 0191120090240061203
|
|
Journal of Korean Medical Science
2009 Volume.24 No. 6 p.1203 ~ p.1206
|
|
|
Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
|
|
Park Eun-Kyung
Park Borae-G
Park Ro-Jin
Kim Hee-Jin
Lee Sang-Jae
Cha Young-Joo
|
|
|
Abstract
|
|
|
|
This case study reports a rare fibrinogen variant, γ Met310Thr mutation, for the first time in Korea. The case shows a point mutation from T to C in the 1,007th nucleotide of the FGG gene. This report describes a variant fibrinogen, hereinafter called "fibrinogen Yecheon", using the name after the town where the patient was living at the time of diagnosis. Fibrinogen Yecheon has a de novo heterozygous point mutation of FGG resulting in γ Met310Thr and subsequent extra N-glycosylation at γ Asn308. Extra N-glycosylated fibrinogen is considered a main inhibitor of normal fibrinogen activity.
|
|
|
KEYWORD
|
|
|
Fibrinogen, Dysfibrinogenemia, FGG Mutation, Fibrinogen Yecheon
|
|
|
FullTexts / Linksout information
|
|
 
|
|
|
Listed journal information
|
|
    
|