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A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion

BACKGROUND: Abnormal fibrinogens can be caused by clinically silent hereditary mutations. A new case was detected accidentally in an 11-year-old girl when routine pre-operative coagulation tests were performed for nasal turbinate surgery. METHODS: The fibrinogen genes FGA, FGG and FGB were sequenced...

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Detalles Bibliográficos
Autores principales: Marchi, R., Linares, M., Rojas, H., Ruiz-Sáez, A., Meyer, M., Casini, A., Brennan, S.O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741905/
https://www.ncbi.nlm.nih.gov/pubmed/29299315
http://dx.doi.org/10.1186/s12878-017-0086-8