Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
Journal of Korean Medical Science
;
: 1203-1206, 2009.
Artículo
en Inglés
| WPRIM
| ID: wpr-63987
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Treonina
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Fibrinógenos Anormales
/
Mutación Puntual
/
Trastornos de la Coagulación Sanguínea Heredados
/
Corea (Geográfico)
/
Metionina
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2009
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS