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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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| Publicado no: | Hum Genomics |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| 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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