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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Detalles Bibliográficos
Autores principales: Zamani, Mina, Seifi, Tahereh, Zeighami, Jawaher, Mazaheri, Neda, Jahangirnezhad, Emad, Gholamzadeh, Minoo, Sedaghat, Alireza, Shariati, Gholamreza, Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Neuroscience Society 2020
Materias:
News and Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878045/
https://www.ncbi.nlm.nih.gov/pubmed/33613893
http://dx.doi.org/10.32598/bcn.9.10.455

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