Abstract Search

ba0007p62 | (1) | ICCBH2019

Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in-vitro mutagenesis model

Uday Suma , Matsumara Tomohiro , Saraff Vrinda , Saito Shiho , Orimo Hideo , Hogler Wolfgang

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

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Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in-vitro mutagenesis model

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