Associated Papers
Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
Aykut A et al.
Gene, 2013
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Rodríguez-Pascau L et al.
Human Mutation, 2009
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