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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:G3 (Bethesda)
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Genetics Society of America 2017
Aiheet:
Mutant Screen Reports
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia