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Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy

PURPOSE: To investigate possible mutations in the carbohydrate sulfotransferase 6 (CHST6) gene of two unrelated cases of macular corneal dystrophy (MCD) and to report atypical stromal deposits in one of them. METHODS: Corneal tissues were stained with anti-sulfated keratan sulfate (KS), anti-transfo...

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Détails bibliographiques
Auteurs principaux: Patel, Dhara A., Harocopos, George J., Chang, Shu-Hong, Vora, Smita C., Lubniewski, Anthony J., Huang, Andrew J.W.
Format: Artigo
Langue:Inglês
Publié: 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3092828/
https://ncbi.nlm.nih.gov/pubmed/21242781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ICO.0b013e3182012888
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