Article
Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.
Human mutation - 1 Jun 2018
Wallis Deeann, Li Kairong, Lui Hui, Hu Ke, Chen Mei-Jan, Li Jing, Kang Jungsoon, Das Shamik, Korf Bruce R, Kesterson Robert A
Abstract excerpt
Neurofibromatosis type 1 (NF1) is caused by pathogenic variants or mutations in the NF1 gene that encodes neurofibromin. We describe here a new approach to determining the functional consequences of NF1 genetic variants. We established a heterologous cell culture expression system using a full-length mouse Nf1 cDNA (mNf1) and human cell lines. We demonstrate that the full-length murine cDNA produces a > 250 kDa...
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