The mast cell - neurofibromatosis connection

The mast cell - neurofibromatosis connection

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 lev...

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Veröffentlicht in:Journal of biological regulators and homeostatic agents 2019-05, Vol.33 (3), p.657-659
Hauptverfasser: Antonopoulos, D, Tsilioni, I, Balatsos, N A A, Gourgoulianis, K I, Theoharides, T C
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:0393-974X