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Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

BACKGROUND: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lan...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Mol Genet Genomic Med
Main Authors: Javadiyan, Shari, Lucas, Sionne E. M., Wangmo, Dechen, Ngy, Meng, Edussuriya, Kapila, Craig, Jamie E., Rudkin, Adam, Casson, Robert, Selva, Dinesh, Sharma, Shiwani, Lower, Karen M., Meucke, James, Burdon, Kathryn P.
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2018
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081222/
https://ncbi.nlm.nih.gov/pubmed/29770612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.406
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