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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Park, Eunkyung, Park, Geumbore, Park, Rojin, Kim, Hee-Jin, Lee, Sang Jae, Cha, Young Joo
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Academy of Medical Sciences 2009
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775876/
https://ncbi.nlm.nih.gov/pubmed/19949684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2009.24.6.1203
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky