Article
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
Disease models & mechanisms - 1 Jul 2016
Li Kairong, Turner Ashley N, Chen Min, Brosius Stephanie N, Schoeb Trenton R, Messiaen Ludwine M, Bedwell David M, Zinn Kurt R, Anastasaki Corina, Gutmann David H, Korf Bruce R, Kesterson Robert A
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity. Some translational studies have been limited by the lack of animal models available for assessing patient-specific mutations. In order to test therapeutic approaches that might restore function to the mutated gene or gene product, we developed mice harboring...
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