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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

View ORCID ProfileMohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
doi: https://doi.org/10.1101/290650
Mohammed O.E. Abdallah
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
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  • ORCID record for Mohammed O.E. Abdallah
Mahmoud E. Koko
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
2Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
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Shima Faisal
3Faculty of Pharmacy, University of Khartoum, Khartoum, Sudan
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Melanie J. Newport
4Wellcome Trust Brighton and Sussex Centre for Global Health Research, Brighton and Sussex Medical School, Brighton, UK
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Muntaser E. Ibrahim
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
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  • For correspondence: mibrahim@iend.org
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Article Information

doi 
https://doi.org/10.1101/290650
History 
  • March 28, 2018.
Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.

Author Information

  1. Mohammed O.E. Abdallah1,*,
  2. Mahmoud E. Koko1,2,*,
  3. Shima Faisal3,*,
  4. Melanie J. Newport4 and
  5. Muntaser E. Ibrahim1,†
  1. 1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
  2. 2Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
  3. 3Faculty of Pharmacy, University of Khartoum, Khartoum, Sudan
  4. 4Wellcome Trust Brighton and Sussex Centre for Global Health Research, Brighton and Sussex Medical School, Brighton, UK
  1. ↵†Corresponding author: Prof. ME Ibrahim, Institute of Endemic Diseases, Department of Molecular Biology, University of Khartoum, 11111 Khartoum, Sudan. P.O. box 102. Email: mibrahim{at}iend.org.
  1. ↵* Equal contribution.

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Posted March 28, 2018.
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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
Mohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
bioRxiv 290650; doi: https://doi.org/10.1101/290650
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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
Mohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
bioRxiv 290650; doi: https://doi.org/10.1101/290650

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