Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family-Reference-Cited by-同舟云学术

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family

Published:2022-06-12 Issue: Volume: Page:1-6
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Zulfiqar Shumaila¹,Moawia Abubakar²,Waseem Syeda Seema³,Ali Zafar⁴,Ramzan Shafaq⁵,Anjum Iram¹,Baig Shahid Mahmood⁵⁶,Tariq Muhammad⁵

Affiliation:

1. Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan

2. Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany

3. Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital, University of Cologne, Cologne, Germany

4. Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan

5. National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan

6. Pakistan Science Foundation, Islamabad, Pakistan

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2022.2082967

Reference22 articles.

1. Dwarfism with retinal atrophy and deafness

2. Mutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome

3. Diagnostic and severity scores for Cockayne syndrome

4. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome

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