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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Pubblicato in:G3 (Bethesda)
Autori principali: Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Mackey, David A., Staffieri, Sandra E., Elder, James E., Taranath, Deepa, Straga, Tania, Black, Joanna, Pater, John, Casey, Theresa, Hewitt, Alex W., Burdon, Kathryn P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Genetics Society of America 2017
Soggetti:
Mutant Screen Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5633377/
https://ncbi.nlm.nih.gov/pubmed/28839118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.117.300109
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