Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

M. G. Pittis, V. Ricci, V. I. Guerci, C. Marçais, G. Ciana, A. Dardis, F. Gerin, M. Stroppiano, M. T. Vanier, M. Filocamo, B. Bembi

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Medicine & Life Sciences