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Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
Lysosomal storage diseases (LSDs) are known as genetic disorders with an overall prevalence of 1 per 7700 live births. Sphingolipidosis, which is a subgroup of LSDs, is resulted from mutations in the coding ge...
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Article
Open AccessIdentification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations
Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycol...