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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:G3 (Bethesda)
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Genetics Society of America 2017
Gaiak:
Mutant Screen Reports
Sarrera elektronikoa: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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