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Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

✍ Scribed by Isabelle Brun-Heath; Anne-Sophie Lia-Baldini; Stéphane Maillard; Agnès Taillandier; Boris Utsch; Mark E. Nunes; Jean-Louis Serre; Etienne Mornet


Book ID
116433049
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
877 KB
Volume
50
Category
Article
ISSN
1769-7212

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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