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Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

✍ Scribed by Etienne Mornet


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
189 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis


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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 the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a s

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