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

Martin Stucki, Terttu Suormala, Brian Fowler, David Valle, Matthias R. Baumgartner

Research output: Contribution to journalArticle

Fingerprint Dive into the research topics of 'Cryptic exon activation by disruption of exon splice enhancer. Novel mechanism causing 3-methyl crotonyl-CoA carboxylase deficiency'. Together they form a unique fingerprint.

Chemical Compounds

Medicine & Life Sciences