A novel point mutation in leukocyte adhesion deficiency : a Pro-178 was substituted for Leu in the highly conserved region of CD18

Homozygous protein C deficiency : identification of a novel missense mutation that causes impaired secretion of the mutant protein C

A nonsense mutation (TGG[Trp[116]]→TAG[Stop]) in CYP11B1 causes steroid 11β-hydroxylase deficiency

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese Patient with a mild form of glycogenosis 7