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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2008
Konular:
Articles
Online Erişim: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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