Publications by authors named "Ahoora Arastehkani"
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 Behnam Kamalidehghan Fatemeh Keshavarzi Omid Aryani Sepideh Dadgar Ahoora Arastehkani
Int J Mol Sci
March 2015
Background: Types A and B Niemann-Pick disease (NPD) are autosomal-recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.
Methods: In order to determine the prevalence and distribution of SMPD1 gene mutations, the genomic DNA of 15 unrelated Iranian patients with types A and B NPD was examined using PCR, DNA sequencing and bioinformatics analysis.
Results: Of 8 patients with the p.