Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

Missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP-2, cause clinically similar but distinctive disorders, LEOPARD (LS) and Noonan (NS) syndromes. The LS is an autosomal dominant disorder with pleomorphic developmental abnormalities including lentigines, cardiac...

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Main Authors: Oishi, Kimihiko, Zhang, Hui, Gault, William J., Wang, Cindy J., Tan, Cheryl C., Kim, In-Kyong, Ying, Huiwen, Rahman, Tabassum, Pica, Natalie, Tartaglia, Marco, Mlodzik, Marek, Gelb, Bruce D.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2009
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Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2644650/
https://ncbi.nlm.nih.gov/pubmed/18849586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn336
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