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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Detalles Bibliográficos
Autores principales: Chao-Shern, Connie, DeDionisio, Lawrence A., Jang, Jun-Heok, Chan, Clara C., Thompson, Vance, Christie, Kathleen, Nesbit, M. Andrew, McMullen, C. B. Tara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707296/
https://www.ncbi.nlm.nih.gov/pubmed/30760895
http://dx.doi.org/10.1038/s41433-019-0346-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707296/
https://www.ncbi.nlm.nih.gov/pubmed/30760895
http://dx.doi.org/10.1038/s41433-019-0346-x

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