A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia

We found a novel heterozygous mutation in the fibrinogen Bβ chain (c.490G>A) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G>A mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell l...

Descripción completa

Detalles Bibliográficos
Autores principales: Taira, Chiaki, Matsuda, Kazuyuki, Arai, Shinpei, Sugano, Mitsutoshi, Uehara, Takeshi, Okumura, Nobuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713436/
https://www.ncbi.nlm.nih.gov/pubmed/29156616
http://dx.doi.org/10.3390/ijms18112470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713436/
https://www.ncbi.nlm.nih.gov/pubmed/29156616
http://dx.doi.org/10.3390/ijms18112470

Ejemplares similares