Article
A new Krüppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes β-thalassemia minor.
Hemoglobin - 1 Jan 2015
Nitta Takenori, Kawano Fumio, Yamashiro Yasuhiro, Takagi Fumiya, Murata Tomoaki, Tanaka Tatehiko, Ferania Mella, Adhiyanto Chris, Hattori Yukio
Abstract excerpt
Here we describe a Japanese patient with mild β-thalassemia (β-thal) with an intact β-globin gene but a new missense mutation of c.947G > A or p.C316Y in the erythroid Krüppel-Like Factor (KLF1) gene which is strongly associated with the expression of the β-globin gene. The association of the KLF...
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