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