in Oxford Dictionary of Biochemistry and Molecular Biology
January 2006; p ublished online January 2008 .
Reference Entry. Subjects: Biochemistry. 17 words.
2‐methyl‐2‐oxopentanoate; an intermediate in the biosynthesis of l‐leucine. See leucine and valine biosynthesis.
l-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome
in Human Molecular Genetics
March 2015; p ublished online November 2014 .
Journal Article. Subjects: Genetics and Genomics. 7979 words.
Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development...