SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. [electronic resource]
- Human mutation Jul 2011
- 760-72 p. digital
Publication Type: Journal Article
1098-1004
10.1002/humu.21492 doi
Adolescent Adult Child Exons Female Genetic Association Studies Heart Septal Defects, Atrial--genetics Heart Septal Defects, Ventricular--genetics Humans INDEL Mutation--genetics Introns Male Mitogen-Activated Protein Kinase Kinases--genetics Mutation Mutation, Missense--genetics Noonan Syndrome--diagnosis Protein Conformation Pulmonary Valve Stenosis--genetics SOS1 Protein--chemistry