Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L) syndrome. Then Sanger sequencing w...

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Bibliographic Details
Main Authors: Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari
Format: Article
Language:English
Published: Iran University of Medical Sciences 2020-07-01
Series:Basic and Clinical Neuroscience
Subjects:
whole-exome sequencing
rs797045105
serac1
megdel
Online Access:http://bcn.iums.ac.ir/article-1-1049-en.html

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http://bcn.iums.ac.ir/article-1-1049-en.html

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