L. Bird

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

R. Brenner, F. Muller, O. Boute, 1999 .

Evidence‐based path to newborn screening for duchenne muscular dystrophy

Cindy Hamil, J. Gastier-Foster, J. Mendell, 2012, Annals of neurology.

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.

R. Brenner, F. Muller, O. Boute, 1999, Human mutation.