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ba0007p61 | (1) | ICCBH2019

Biochemical and genetic analysis in patients with odontohypophosphatasia in Japan

Kubota Takuo , Ohata Yasuhisa , Ishihara Yasuki , Fujiwara Makoto , Takeyari Shinji , Yamamoto Kenichi , Nakano Yukako , Miyata Kei , Nakayama Hirofumi , Kitaoka Taichi , Okawa Rena , Nakano Kazuhiko , Akiyama Tomoyuki , Ozono Keiichi

Background: Hypophosphatasia (HPP) is characterized by defective mineralization of bone and/or teeth in the presence of low serum alkaline phosphatase (ALP) activity and caused by mutations in the ALPL gene encoding tissue-nonspecific ALP. Odontohypophosphatasia (odonto HPP) is the mildest form of hypophosphatasia and characterized by dental complications without abnormalities of the skeleton system.Objectives: We aimed to investigate biochemical and gen...
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Bone Abstracts
ISSN 2052-1219 (online)
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