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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2017
Materias:
Mutant Screen Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633377/
https://www.ncbi.nlm.nih.gov/pubmed/28839118
http://dx.doi.org/10.1534/g3.117.300109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633377/
https://www.ncbi.nlm.nih.gov/pubmed/28839118
http://dx.doi.org/10.1534/g3.117.300109

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