The mast cell - neurofibromatosis connection
- PMID: 31184097
The mast cell - neurofibromatosis connection
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.
Keywords: mast cell; neurofibromatosis.
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