Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population
Abstract Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1. To date, more than hundred disease- causing mutations have been identified in SM...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | fas |
| Published: |
Arak Medical University
2016-09-01
|
| Series: | Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk |
| Subjects: | |
| Online Access: | http://amuj.arakmu.ac.ir/article-1-4366-en.pdf |