Selective Disactivation of Neurofibromin GAP Activity in Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of malignant tumours. It is caused by a wide spectrum...

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Veröffentlicht in:	Human molecular genetics 1998-08, Vol.7 (8), p.1261-1268
Hauptverfasser:	Klose, Anja, Reza Ahmadian, M., Schuelke, Markus, Scheffzek, Klaus, Hoffmeyer, Sven, Gewies, Andreas, Schmitz, Frank, Kaufmann, Dieter, Peters, Hartmut, Wittinghofer, Alfred, Nürnberg, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Biological and medical sciences Female Gene Expression Regulation Genome, Human GTPase-Activating Proteins Humans Male Medical sciences Molecular Sequence Data Mutation Neurofibromatosis 1 - genetics Neurofibromatosis 1 - metabolism Neurofibromin 1 Neurology Proteins - genetics Proteins - metabolism ras GTPase-Activating Proteins Sequence Alignment Tumors of the nervous system. Phacomatoses
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