Cryptic exon activation by disruption of exon splice enhancer. Novel mechanism causing 3-methyl crotonyl-CoA carboxylase deficiency

Medicine & Life Sciences

• crotonyl-coenzyme A 100%
• Exons 42%
• 3-methylcrotonyl CoA carboxylase 1 deficiency 16%
• methylcrotonoyl-CoA carboxylase 16%
• Mutation 9%
• Biotin 9%
• Missense Mutation 8%
• Reading Frames 5%
• Genetic Enhancer Elements 5%
• RNA Splice Sites 5%
• Enzymes 4%
• Leucine 4%
• Point Mutation 4%
• Introns 4%
• Sequence Analysis 3%
• Complementary DNA 3%
• Fibroblasts 3%
• Western Blotting 2%

Chemical Compounds

• Enhancer 60%
• Mutation 43%
• Complementary DNA 7%
• Leucine 7%
• Disorder 6%
• Donor 4%
• Reduction 3%