SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations-Reference-Cited by-同舟云学术

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Published:2011-04-28 Issue:7 Volume:32 Page:760-772
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lepri Francesca,De Luca Alessandro,Stella Lorenzo,Rossi Cesare,Baldassarre Giuseppina,Pantaleoni Francesca,Cordeddu Viviana,Williams Bradley J.,Dentici Maria L.,Caputo Viviana,Venanzi Serenella,Bonaguro Michela,Kavamura Ines,Faienza Maria F.,Pilotta Alba,Stanzial Franco,Faravelli Francesca,Gabrielli Orazio,Marino Bruno,Neri Giovanni,Silengo Margherita Cirillo,Ferrero Giovanni B.,Torrrente Isabella,Selicorni Angelo,Mazzanti Laura,Digilio Maria C.,Zampino Giuseppe,Dallapiccola Bruno,Gelb Bruce D.,Tartaglia Marco

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21492/fullpdf

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4. Electrostatics of nanosystems: application to microtubules and the ribosome;Baker;Proc Natl Acad Sci USA,2001

5. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions;Beneteau;Eur J Hum Genet,2009

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