Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

V. Ricci, M. Stroppiano, F. Corsolini, M. Di Rocco, G. Parenti, S. Regis, S. Grossi, R. Biancheri, R. Mazzotti, M. Filocamo

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Medicine & Life Sciences