Article
Nf1 has an essential role in endothelial cells.
Nature genetics - 1 Jan 2003
Gitler Aaron D, Zhu Yuan, Ismat Fraz A, Lu Min Min, Yamauchi Yasutaka, Parada Luis F, Epstein Jonathan A
Abstract excerpt
Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is a genetic disorder that occurs in 1 of 4000 births and is characterized by benign and malignant tumors. Cardiovascular defects also contribute to NF1, though the pathogenesis is still unclear. Deficiency in neurofibromin (encoded by Nf1) in mice results in mid-embryonic lethality owing to cardiac abnormalities previously thought to be...
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