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1. da Veiga Pereira, L., Desnick, R. J., Adler, D. A., Disteche, C. M., Schuchman, E. H. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4. Genomics 9: 229-234, 1991.2. Ferlinz, K., Hurwitz, R., Sandhoff, K. Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. Biochem. Biophys. Res. Commun. 179: 1187-1191, 1991.3. Ferlinz, K., Hurwitz, R., Weiler, M., Suzuki, K., Sandhoff, K., Vanier, M. T. Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. Am. J. Hum. Genet. 56: 1343-1349, 1995. |