Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome

Keyphrases

• Novel mutation 100%
• Aberrant Splicing 100%
• Ellis-van Creveld Syndrome 100%
• Splicing mutation 33%
• Autosomal Recessive 16%
• Gain-of-function mutation 16%
• Gene mutation 16%
• Specific Features 16%
• Molecular Analysis 16%
• Sequence Analysis 16%
• Splice Site 16%
• Clinical Analysis 16%
• PCR Analysis 16%
• Splice Junction 16%
• Functional Domain 16%
• Chinese Family 16%
• Splicing Process 16%
• Chinese Population 16%
• EVC2 16%
• Inherited Disorders 16%
• Mild Phenotype 16%
• Exon 4 16%
• Nail Dystrophy 16%
• Expression Assay 16%
• Splicing Pattern 16%
• Acceptor Site 16%
• Minigene 16%
• Postaxial Polydactyly 16%
• Chondrodysplasia 16%
• Dental Abnormalities 16%
• EVC Gene 16%
• Skipping 16%
• EVC2 Gene 16%
• Exon 11 16%
• Congenital Cardiac Malformation 16%
• Acrofacial Dysostosis 16%

Biochemistry, Genetics and Molecular Biology

• Intron 100%
• Exon 100%
• Splice Site Mutation 100%
• Binding Site 50%
• Autosomal Recessive Disorder 50%
• Gene Mutation 50%
• Reverse Transcription Polymerase Chain Reaction 50%
• Loss of Function Mutation 50%
• Minigene 50%