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Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12

PURPOSE: To describe a severe phenotype of Meesmann's epithelial corneal dystrophy (MECD) and to determine the underlying molecular cause. METHODS: We identified a 30-member family affected by MECD and examined 11 of the 14 affected individuals. Excised corneal tissue from one affected individu...

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Hlavní autoři: Hassan, H, Thaung, C, Ebenezer, N D, Larkin, G, Hardcastle, A J, Tuft, S J
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3597869/
https://ncbi.nlm.nih.gov/pubmed/23222558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2012.261
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