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Báo cáo khoa học: Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433 fi Cys substitution associated with severe hypophosphatasia

Chia sẻ: Nguyen Thang | Ngày: | Loại File: PDF | Số trang:13

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Various mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene are responsible for hypophosphatasia characterized by defective bone and tooth mineralization; however, the underlying molecular mechanisms remain largely to be elucidated. Substitution of an arginine at position 433 with a histidine [TNSALP(R433H)] or a cysteine [TNSALP(R433C)] was reported in patients diagnosed with the mild or severe form of hypo-phosphatasia, respectively.

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Nội dung Text: Báo cáo khoa học: Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433 fi Cys substitution associated with severe hypophosphatasia

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