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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).
Manshadi MD, Kamalidehghan B, Keshavarzi F, Aryani O, Dadgar S, Arastehkani A, Tondar M, Ahmadipour F, Meng GY, Houshmand M. Manshadi MD, et al. Among authors: kamalidehghan b. Int J Mol Sci. 2015 Mar 24;16(4):6668-76. doi: 10.3390/ijms16046668. Int J Mol Sci. 2015. PMID: 25811928 Free PMC article.
Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M. Jamali S, et al. Among authors: kamalidehghan b. Iran Biomed J. 2014;18(2):114-9. doi: 10.6091/ibj.1137.2013. Iran Biomed J. 2014. PMID: 24518553 Free PMC article.
68 results