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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

✍ Scribed by Mornet, E; Taillandier, A; Peyramaure, S; Kaper, F; Muller, F; Brenner, R; Bussière, P; Freisinger, P; Godard, J; Le Merrer, M

Book ID
110024699
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
87 KB
Volume
6
Category
Article
ISSN
1018-4813

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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

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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