Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.

Simsek Mehmet, Al-Gazali Lihadh, Al-Mjeni Reyhanah, Bayoumi Riad

Department of Biochemistry, College of Medicine, Sultan Qaboos University, Muscat, Oman.

Clin Biochem. 2003 Mar;36(2):151-3. doi: 10.1016/s0009-9120(02)00441-1.

Abstract

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