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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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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Mackay, Donna S, Bennett, Thomas M, Culican, Susan M, Shiels, Alan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4240822/
https://ncbi.nlm.nih.gov/pubmed/25403472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-014-0019-6
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