Article
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.
Human mutation - 1 Feb 2011
Welti Stefan, Kühn Sonja, D'Angelo Igor, Brügger Britta, Kaufmann Dieter, Scheffzek Klaus
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by alterations in the tumor suppressor gene NF1. Clinical manifestations include various neural crest derived tumors, pigmentation anomalies, bone deformations, and learning disabilities. NF1 encodes the Ras specific GTPase activating protein (RasGAP) neurofibromin, of which the central RasGAP related domain as well as a Sec14-like (residues...
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