Molecular basis for the p and Pk phenotypes in three Chinese individuals.

The article presents a study which identifies two rare null phenotypes, p k and p in three Chinese individuals. It examines the significant effect of the frameshift mutation, amino acids and galactosyltransferase in the enzyme activity. It notes that the three Chinese individuals have missense mutations, which encoded single amino acid substitution in a high conserved region of the enzymatically dynamic carboxyl terminal domain.