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...

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Publicado en:Int J Mol Sci
Main Authors: Taira, Chiaki, Matsuda, Kazuyuki, Arai, Shinpei, Sugano, Mitsutoshi, Uehara, Takeshi, Okumura, Nobuo
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5713436/
https://ncbi.nlm.nih.gov/pubmed/29156616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18112470
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