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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
The American Journal of Human Genetics · 2002 · Vol. 70(6) · pp. 1555–1563
Marco Tartaglia(Istituto Superiore di Sanità)Kamini Kalidas(St George's, University of London)Adam Shaw(St George's, University of London)Xiaoling Song(Icahn School of Medicine at Mount Sinai)Dan L. Musat(Icahn School of Medicine at Mount Sinai)Ineke van der Burgt(Radboud University Nijmegen)Han G. Brunner(Radboud University Nijmegen)Débora Romeo Bertola(Universidade de São Paulo)Andrew H. Crosby(St George's, University of London)Andra Ion(St George's, University of London)Raju Kucherlapati(Harvard University)Steve Jeffery(St George's, University of London)Michael A. Patton(St George's, University of London)Bruce D. Gelb✉(Icahn School of Medicine at Mount Sinai)
Protein Tyrosine PhosphatasesGalectins and Cancer BiologyRNA modifications and cancerPTPN11Noonan syndromeMissense mutationGeneticsBiologyGenetic heterogeneityPhenotypeProto-oncogene tyrosine-protein kinase SrcMutationMolecular biology
MeSH terms
BuffersDNA Mutational AnalysisExonsFemaleGenotypeHumansIntronsMaleModels, MolecularMutationNoonan SyndromePedigreePhenotypeProtein ConformationTemperature
Funding
- British Heart Foundation
- National Institutes of Health
Citations
787
FWCI
12.21
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42
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99%
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Trends in Biochemical Sciences · 2003 · 1,222 citations
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