Article
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Human mutation - 1 Jan 2001
Taillandier A, Lia-Baldini A S, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre J L, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre A G, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple I K, Viot G, Mornet E
Abstract excerpt
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 in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7...
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