Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia
Sign Up to like & getrecommendations! Published in 2018 at "Bioscience Reports"
DOI: 10.1042/bsr20171377
Abstract: Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies… read more here.
Keywords: adult; childhood; four novel; gene ... See more keywords
Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.863940
Abstract: Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher prevalence than… read more here.
Keywords: symptomatology; genetic variants; uncertain significance; alpl gene ... See more keywords