Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

• Main Authors: Fauvert Delphine (Author), Brun-Heath Isabelle (Author), Lia-Baldin (Author), Bellazi Linda (Author), Taillandier Agnès (Author), Serre Jean-Louis (Author), de Mazancourt Philippe (Author), Mornet Etienne (Author)
• Format: Book
• Published: BMC, 2009-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...