Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.
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SUBMITTER: Park E
PROVIDER: S-EPMC2775876 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
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Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.
Park Eunkyung E Park Geumbore G Park Rojin R Kim Hee-Jin HJ Lee Sang Jae SJ Cha Young Joo YJ
Journal of Korean medical science 20091109 6
This case study reports a rare fibrinogen variant, gamma 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 gamma Met310Thr and subsequent extra N-glycosylation at ...[more]
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