| Literature DB >> 31184097 |
D Antonopoulos1,2, I Tsilioni2, N A A Balatsos1, K I Gourgoulianis3, T C Theoharides2,4,5,6.
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1/3000 individuals worldwide. It results from germline mutations of the neurofibromin gene and it is fully penetrant by the age of 5. Neurofibromin is a 2818 amino acid protein that is produced in many cell types, but its levels are especially high in the nervous system.Entities:
Keywords: mast cell; neurofibromatosis
Mesh：
Year: 2019 PMID： 31184097
Source DB: PubMed Journal: J Biol Regul Homeost Agents ISSN： 0393-974X Impact factor: 1.711