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Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing
To date, 70 different TGFBI mutations that cause epithelial-stromal corneal dystrophies have been described. At present one commercially available test examines for the five most common of these mutations: R124H, R124C, R124L, R555W, and R555Q. To expand the capability of identifying the causative m...
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| Publicado no: | Eye (Lond) |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6707296/ https://ncbi.nlm.nih.gov/pubmed/30760895 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-019-0346-x |
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