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Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract
BACKGROUND: Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes. CASE PRESENTATION: Fifty-one genes im...
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| Pubblicato in: | BMC Res Notes |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4750205/ https://ncbi.nlm.nih.gov/pubmed/26867756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-016-1890-0 |
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