SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri, Francesca
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
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