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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Gepubliceerd in:G3 (Bethesda)
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Genetics Society of America 2017
Onderwerpen:
Mutant Screen Reports
Online toegang: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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