Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1± Subunit

Medicine & Life Sciences

• Maple Syrup Urine Disease 100%
• Exons 53%
• Thiamine Pyrophosphate 39%
• Mutation 35%
• RNA Splice Sites 31%
• Terminator Codon 30%
• Mutant Proteins 13%
• Missense Mutation 13%
• Potassium 11%
• Ions 10%
• Genes 10%
• Child 5%