Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00839.x/fullpdf
Reference28 articles.
1. Noonan syndrome and related disorders: genetics and pathogenesis;Tartaglia;Annu Rev Genomics Hum Genet,2005
2. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity;Tartaglia;Am J Hum Genet,2002
3. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome;Tartaglia;Nat Genet,2001
4. Germline KRAS mutations cause Noonan syndrome;Schubbert;Nat Genet,2006
5. Germline gain-of-function mutations in SOS1 cause Noonan syndrome;Roberts;Nat Genet,2007
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