Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.

导出 LinkOut

翻译打印收藏纠错

第一作者： Nozomi,Matsuda

第一单位： Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.

作者： Nozomi,Matsuda ^[1] ; Kei,Takasawa ^[2] ; Yasuhisa,Ohata ^[1] ; Shigeru,Takishima ^[3] ; Takuo,Kubota ^[1] ; Yasuki,Ishihara ^[2] ; Makoto,Fujiwara ^[3] ; Erika,Ogawa ^[3] ; Tomohiro,Morio ^[4] ; Kenichi,Kashimada ^[5] ; Keiichi,Ozono ^[3]

作者单位： Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan. ^[1] Department of Pediatrics, Soka Municipal Hospital, Saitama 340-8560, Japan. ^[2] Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan. ^[3] The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka 565-0871, Japan. ^[4] Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan. ^[5] Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo 101-8309, Japan. ^[6]

关键词 Hypophosphatasia Single nucleotide polymorphism (SNP)Tissue-nonspecific alkaline phosphatase (TNSALP)alkaline phosphatase (ALPL) gene