Article
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.
Human mutation - 1 Jan 1999
Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre J L, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann P H, Steinmann B, Wallot M, 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 the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 9 families affected by severe hypophosphatasia. Fourteen distinct mutations were found, 3 of which were...
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