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.

Autor: Chiaki Taira1 tairacha@shinshu-u.ac.jp, Kazuyuki Matsuda2 kmatsuda@shinshu-u.ac.jp, Shinpei Arai2 m061201h@shinshu-u.ac.jp, Mitsutoshi Sugano2 suga@shinshu-u.ac.jp, Takeshi Uehara3 tuehara@shinshu-u.ac.jp, Nobuo Okumura1 nobuoku@shinshu-u.ac.jp
Zdroj: International Journal of Molecular Sciences. Nov2017, Vol. 18 Issue 11, p2470. 10p.
Databáze: Academic Search Ultimate