Does [ A novel KIT gene mutation result in piebaldism ]?
The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.
This is the first study to evaluate hGGT2 protein. The data show that hGGT2 does not encode a functional enzyme. Microarray data which have reported induction of hGGT2 mRNA should not be interpreted as induction of a protein that has a role in the metabolism of extracellular glutathione and in maintaining the redox status of the cell.