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Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitutionopen access
- Authors
- Park, E[Park, Eunkyung]; Park, G[Park, Geumbore]; Park, R[Park, Rojin]; Kim, HJ[Kim, Hee-Jin]; Lee, SJ[Lee, Sang Jae]; Cha, YJ[Cha, Young Joo]
- Issue Date
- Dec-2009
- Publisher
- KOREAN ACAD MEDICAL SCIENCES
- Citation
- JOURNAL OF KOREAN MEDICAL SCIENCE, v.24, no.6, pp.1203 - 1206
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- JOURNAL OF KOREAN MEDICAL SCIENCE
- Volume
- 24
- Number
- 6
- Start Page
- 1203
- End Page
- 1206
- ISSN
- 1011-8934
- Abstract
- 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 gamma Asn308. Extra N-glycosylated fibrinogen is considered a main inhibitor of normal fibrinogen activity.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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