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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

BACKGROUND: Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular di...

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Detalles Bibliográficos
Autores principales:	Mackay, Donna S, Bennett, Thomas M, Culican, Susan M, Shiels, Alan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Primary Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240822/ https://www.ncbi.nlm.nih.gov/pubmed/25403472 http://dx.doi.org/10.1186/s40246-014-0019-6

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