POS0357 A NOVEL MUTATION IN ALPL GENE CAUSING ADULT AUTOSOMAL DOMINANT HYPOPHOSPHATASIA IN A FAMILY OF SOUTHERN SPAIN: PHENOTYPE CHARACTERIZATION

Abstract

BackgroundTissue non-specific alkaline phosphatase (TNSALP) is essential for bone and tooth extracellular matrix mineralization. The gene encoding TNSALP (ALPL) is located on the long arm of chromosome 2. More than...