Article
Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.
Bone - 1 Jun 2011
Mentrup B, Marschall C, Barvencik F, Amling M, Plendl H, Jakob F, Beck C
Abstract excerpt
Hypophosphatasia (HPP) is a rare inborn disease caused by different mutations in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Previous studies showed that gene mutations could exhibit a dominant negative effect leading to a mild HPP phenotype in heterozygous carriers. In the present report we describe the clinical and functional studies of a novel mutation localized in the start codon of transcript...
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