ArticleInternational journal of molecular sciences2015

Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).

Masoumeh Dehghan Manshadi et al.PubMed ↗Full text ↗Publisher ↗

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