Melorheostosis (see this term) has been described in some patients from BOS families.
In melorheostosis, all the identified MAP2K1 mutations affected a region of the MEK1 protein that normally suppresses its activity, thus, they caused MEK1 to become overactive.
In melorheostosis, all the identified MAP2K1 mutations affected a region of the MEK1 protein that normally suppresses its activity, thus they cause MEK1 to become overactive.
In melorheostosis, all the identified MAP2K1 mutations affect a region of the MEK1 protein that normally suppresses its activity, thus they cause MEK1 to become overactive.
After multiple injuries, scores of tests, and dozens of doctors she was diagnosed with melorheostosis, a rare, non-hereditary bone disease.
In melorheostosis, all the identified MAP2K1 mutations affected a region of the MEK1 protein that normally suppresses its activity, thus, they caused MEK1 to become overactive.
In melorheostosis, all the identified MAP2K1 mutations affected a region of the MEK1 protein that normally suppresses its activity, thus they cause MEK1 to become overactive.
Though there are only about 400 known cases of this disorder worldwide, 15 unrelated adults with the condition from around the globe volunteered to come to the NIH Clinical Center to undergo biopsies of both affected and unaffected bones.
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