A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

Keyphrases

• ELN Gene 100%
• Elastinopathies 100%
• Supravalvular Aortic Stenosis 100%
• Splice Site mutation 100%
• Cutis Laxa 60%
• Haploinsufficiency 40%
• Last Exon 40%
• Molecular Mechanism 20%
• Extracellular Matrix 20%
• C-terminus 20%
• Exon 1 20%
• Intron Retention 20%
• Cryptic Splice Site 20%
• PCR Analysis 20%
• Blood Vessels 20%
• Skin Tissue 20%
• Elastin Fibers 20%
• Exon 30 20%
• Elastin 20%
• Skin Involvement 20%
• Coacervation 20%
• Dominant-negative Effect 20%
• Aberrant Transcripts 20%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Splice Site Mutation 100%
• Autosomal Dominant Inheritance 75%
• C-Terminus 50%
• Haploinsufficiency 50%
• Elastin 50%
• Intron Retention 25%
• Reverse Transcription Polymerase Chain Reaction 25%
• Cross-Link 25%
• Coacervation 25%
• Molecular Mechanism 25%