Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
<p>Abstract</p> <p>Background</p> <p>Mild hypophosphatasia (HPP) phenotype may result from <it>ALPL </it>gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect. In order to...
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BMC,
2009-06-01T00:00:00Z.
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A1234.567 |
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