Cargando…
A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation: A case report
RATIONALE: Congenital dysfibrinogenemia (CD) is characterized by altered functional properties of the fibrinogen; people who suffer from CD often have a low activity of fibrinogen and the mutation in the genomic DNA. PATIENT CONCERNS: A 6-year-old child was examined with a low activity of fibrinogen...
Autores principales: | Cai, Ruimin, Li, Yi, Wang, Wenyang, Gao, Xue, Liu, Meirong, Diao, Youxiang, Tang, Yi, Feng, Qiang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200480/ https://www.ncbi.nlm.nih.gov/pubmed/30290666 http://dx.doi.org/10.1097/MD.0000000000012697 |
Ejemplares similares
-
A family study of congenital dysfibrinogenemia caused by a novel mutation in the FGA gene: A case report
por: Qiao, Yingli, et al.
Publicado: (2020) -
A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment
por: Zhou, Jihao, et al.
Publicado: (2017) -
A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion
por: Marchi, R., et al.
Publicado: (2017) -
Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
por: Park, Eunkyung, et al.
Publicado: (2009) -
Interference of Monoclonal Gammopathy with Fibrinogen Assay Producing Spurious Dysfibrinogenemia
por: Martini, Francesca, et al.
Publicado: (2019)