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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Détails bibliographiques
Publié dans:BMC Res Notes
Auteurs principaux: Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Pater, John, Casey, Theresa, Hodson, Trevor, Burdon, Kathryn P.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Case Report
Accès en ligne: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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