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NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome  Alessandro De Luca, Irene Bottillo, Anna Sarkozy,

PubblicatoJules Marier Modificato 5 anni fa

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Presentazione sul tema: "NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome  Alessandro De Luca, Irene Bottillo, Anna Sarkozy,"— Transcript della presentazione:

1 NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome 
Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria M. Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, Maria Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola  The American Journal of Human Genetics  Volume 77, Issue 6, Pages (December 2005) DOI: /498454 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Facial characteristics and other clinical features of study individuals with NFNS The American Journal of Human Genetics  , DOI: ( /498454) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Three-dimensional model showing location of residues affected by mutations in the neurofibromin GAP-related domain/RAS complex. Ribbon-like structures of neurofibromin GAP-related domain and RAS are shown in green and yellow, respectively. The mutated residues (Lys1423, Asn1430, Val1432, and Glu1438), the catalytic arginine finger (Arg1276), and GDP are represented by sticks and transparent surfaces. Molecular alignment and representation were made with the programs SwissPdb Viewer v. 3.7 (Guex and Peitsch 1997) and PyMOL (DeLano 2002), respectively. The American Journal of Human Genetics  , DOI: ( /498454) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

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