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首页> Bone> 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.

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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作者： Suma,Uday ^[1] ; Tomohiro,Matsumura ^[2] ; Vrinda,Saraff ^[3] ; Shiho,Saito ^[2] ; Hideo,Orimo ^[2] ; Wolfgang,Högler ^[4]

作者单位： Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK. ^[1] Department of Biochemistry and Molecular Biology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan. ^[2] Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK. ^[3] Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University, Linz, Austria. Electronic address: Wolfgang.hoegler@jku.at. ^[4]

关键词 Alkaline phosphatase Enzyme activity Hypophosphatasia Mineralization TNAP TNSALP

主题词碱性磷酸酶(Alkaline Phosphatase);等位基因(Alleles);钙化, 生理性(Calcification, Physiologic);细胞系, 肿瘤(Cell Line, Tumor);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);低磷酸酯酶症(Hypophosphatasia);婴儿, 新生(Infant, Newborn);男(雄)性(Male);诱变(Mutagenesis);突变(Mutation)

DOI 10.1016/j.bone.2019.05.031

PMID 31146036

发布时间 2020-09-14

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