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.
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R. Brenner | F. Muller | O. Boute | D. Gaillard | B. Steinmann | P. Heidemann | B. Simon‐Bouy | E. Mornet | M. Wallot | J. Serre | A. Taillandier | L. Zurutuza | L. Bird | J. Cousin