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A Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family
Objective: The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. Methods: Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples wer...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Ivyspring International Publisher
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3894400/ https://ncbi.nlm.nih.gov/pubmed/24465161 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7150/ijms.7567 |
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