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G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family

✍ Scribed by H. Orimo; Y. S. Shin; T. Shimada


Book ID
110413770
Publisher
Springer
Year
2002
Tongue
English
Weight
37 KB
Volume
25
Category
Article
ISSN
0141-8955

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Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations i