Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

Abstract excerpt

Approximately 90 different mutations associated with ornithine transcarbamylase (OTC) deficiency are currently known. Thus, the majority represent private mutations. However, some of the mutations seemed to be recurrent. Our laboratories identified apparent deleterious mutations in 78 consecutive...

Topics

• Female
• Humans
• Male
• Mutation
• Ornithine Carbamoyltransferase Deficiency Disease
• Polymorphism, Single-Stranded Conformational