Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
These results suggest that the protein translated from the mutant F310L, in addition to the mutant V365I, may be responsible for the expression of symptoms of the childhood-type HOPS.
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.