Associated Papers
Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease.
Bolukbasi S et al.
International Ophthalmology, 2019
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
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 et al.
International Journal of Molecular Sciences, 2015
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