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A SUGGESTED ROLE FOR MITOCHONDRIA IN NOONAN SYNDROME
Noonan syndrome (NS) is an autosomal dominant disorder, and a main feature is congenital heart malformation. About 50% of cases are caused by gain of function mutations in the tyrosine phosphatase SHP2/PTPN11, a downstream regulator of ERK/MAPK. Recently it was reported that SHP2 also localizes to t...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2878584/ https://ncbi.nlm.nih.gov/pubmed/19835954 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2009.10.005 |
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