Journal of Human Genetics and Genomics

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Novel Homozygous Nonsense Mutation of PMS1 in a Patient with Multifocal Schwanomatosis Schwanomatosis Resembling Neurofibromatosis Type 2

Mohammad Taghi Akbari 1 , 2 and Mojgan Ataei Kachui 2 , *
Authors Information
1 Medical Genetics Department, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, IR Iran
2 Tehran Medical Genetics Laboratory, Tehran, IR Iran
Article information
  • Journal of Human Genetics and Genomics: July 2018, 2 (1); e81239
  • Published Online: July 15, 2018
  • Article Type: Research Article
  • Received: July 1, 2018
  • Accepted: July 10, 2018
  • DOI: 10.5812/jhgg.81239

How to Cite: Taghi Akbari M, Ataei Kachui M. Novel Homozygous Nonsense Mutation of PMS1 in a Patient with Multifocal Schwanomatosis Schwanomatosis Resembling Neurofibromatosis Type 2, J Human Gen Genom. 2018 ; 2(1):e81239. doi: 10.5812/jhgg.81239.

Copyright © 2018, Journal of Human Genetics and Genomics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited
1. Background
2. Methods
3. Results
4. Discussion
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