Associated Papers
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.
Saneifard H et al.
Molecular Genetics and Metabolism Reports, 2024
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P et al.
European Journal of Human Genetics : Ejhg, 2023
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Abtahi R et al.
Hereditas, 2022
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
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