Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

PURPOSE: In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corn...

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Autori principali: Poulsen, Ebbe Toftgaard, Runager, Kasper, Risør, Michael W., Dyrlund, Thomas F., Scavenius, Carsten, Karring, Henrik, Praetorius, Jeppe, Vorum, Henrik, Otzen, Daniel E., Klintworth, Gordon K., Enghild, Jan J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4163973/
https://ncbi.nlm.nih.gov/pubmed/24302499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/prca.201300058
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