High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric catarac...

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Bibliographic Details
Main Authors: Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M. Lower, David A. Mackey, Sandra E. Staffieri, James E. Elder, Deepa Taranath, Tania Straga, Joanna Black, John Pater, Theresa Casey, Alex W. Hewitt, Kathryn P. Burdon
Format: Article
Language:English
Published: Oxford University Press 2017-10-01
Series:G3: Genes, Genomes, Genetics
Subjects:
Ion Torrent
PGM
congenital cataract
pediatric cataract
massively parallel sequencing
Mutant Screen Report
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.117.300109

Internet

http://g3journal.org/lookup/doi/10.1534/g3.117.300109

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