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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).
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 4, p. 6668, doi. 10.3390/ijms16046668
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- Article