Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.

Abstract excerpt

Hypophosphatasia is an inherited disorder caused by mutations in the bone alkaline phosphatase gene. We report here 11 new mutations responsible for hypophosphatasia. Four of them were deletions or insertions resulting in frameshift, two affected a donor splice site and five were missense mutations. Site-directed mutagenesis and transfection experiments of missense mutations showed that the mutations resulted in...

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