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

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...

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Bibliographic Details
Main Authors: Chiaki Taira, Kazuyuki Matsuda, Shinpei Arai, Mitsutoshi Sugano, Takeshi Uehara, Nobuo Okumura
Format: Article
Language:English
Published: MDPI AG 2017-11-01
Series:International Journal of Molecular Sciences
Subjects:
hypofibrinogenemia
FGB
splicing abnormality
cryptic splice site
Online Access:https://www.mdpi.com/1422-0067/18/11/2470

Internet

https://www.mdpi.com/1422-0067/18/11/2470

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