Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas somatic mutations in the same gene contribute to leukemogenesis. On the basis of our previously gathered genetic and biochemica...

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Main Authors: Tartaglia, Marco, Martinelli, Simone, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Cordeddu, Viviana, Zampino, Giuseppe, Burgt, Ineke van der, Palleschi, Antonio, Petrucci, Tamara C., Sorcini, Mariella, Schoch, Claudia, Foà, Robin, Emanuel, Peter D., Gelb, Bruce D.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380235/
https://ncbi.nlm.nih.gov/pubmed/16358218
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