Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing-Reference-Cited by-同舟云学术

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing

Published:2019-02-13 Issue:6 Volume:33 Page:874-881
ISSN:0950-222X
Container-title:Eye
language:en
Short-container-title:Eye

Author:

Chao-Shern Connie^ORCID,DeDionisio Lawrence A.^ORCID,Jang Jun-Heok,Chan Clara C.,Thompson Vance,Christie Kathleen,Nesbit M. Andrew,McMullen C. B. Tara

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Link

http://www.nature.com/articles/s41433-019-0346-x.pdf

Reference26 articles.

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2. Han KE, Choi SI, Maeng YS, Stulting RD, Ji YW, Kim EK. Pathogenesis and treatments of TGFBI corneal dystrophies. Progress Retin eye Res. 2016;50:67–88.

3. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, et al. Human gene mutation database (HGMD®): 2003 update. Human Mutat. 2003;21:577–81.

4. Korvatska E, Henry H, Mashima Y, Yamada M, Bachmann C, Munier FL, et al. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem. 2000;275:11465–9.

5. Evans CJ, Davidson AE, Carnt N, López KE, Veli N, Thaung CM, et al. Genotype-phenotype correlation for TGFBI corneal dystrophies identifies p.(G623D) as a novel cause of epithelial basement membrane dystrophy TGFBI p.(G623D) Identified as Novel Cause of EBMD. Invest Ophthalmol & Vis Sci. 2016;57:5407–14.

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