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Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
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 a...
Autores principales: | Park, Eunkyung, Park, Geumbore, Park, Rojin, Kim, Hee-Jin, Lee, Sang Jae, Cha, Young Joo |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775876/ https://www.ncbi.nlm.nih.gov/pubmed/19949684 http://dx.doi.org/10.3346/jkms.2009.24.6.1203 |
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