Molecular biology of the neurofibromatoses.
The molecular biology of the neurofibromatoses is fascinating, both because the process of obtaining the data has been instructive in investigating other genetic disorders and because those data will be so informative about physiological and pathological phenomena well beyond the neurofibromatoses themselves. In this brief overview, the highlights of the molecular biology of NF-1 and NF-2 are noted and their significance considered in terms of key clinical facts.
Riccardi
V M
VM
Neurofibromatosis Institute, La Crescenta, CA.
D000818:Animals; D002886:Chromosomes, Human, Pair 17; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D017253:Neurofibromatoses / Q000235:genetics* / Q000378:metabolism; D025542:Neurofibromin 1; D010641:Phenotype; D011506:Proteins / Q000235:genetics / Q000502:physiology
D025542:Neurofibromin 1; D011506:Proteins