Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Missense PTPN11 mutations cause Noonan and LEOPARD syndromes (NS and LS), two developmental disorders with pleiomorphic phenotypes. PTPN11 encodes SHP2, an SH2 domain-containing protein tyrosine phosphatase functioning as a signal transducer. Generally, different substitutions of a particular amino...

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Auteurs principaux: Martinelli, Simone, Torreri, Paola, Tinti, Michele, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Grottesi, Alessandro, Ceccarini, Marina, Palleschi, Antonio, Cesareni, Gianni, Castagnoli, Luisa, Petrucci, Tamara C., Gelb, Bruce D., Tartaglia, Marco
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2008
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2900904/
https://ncbi.nlm.nih.gov/pubmed/18372317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn099
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