The mast cell - neurofibromatosis connection
Antonopoulos, D.; Tsilioni, I.; Balatsos, N.A.A.; Gourgoulianis, K.I.; Theoharides, T.C.
Journal of Biological Regulators and Homeostatic Agents 33(3): 657-659
2019
ISSN/ISBN: 0393-974X PMID: 31184097 Document Number: 698237
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.
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