Linkage of Posterior Amorphous Corneal Dystrophy to Chromosome 12q21.33 and Exclusion of Coding Region Mutations in KERA, LUM, DCN, and EPYC

PURPOSE. To identify the genetic basis of posterior amorphous corneal dystrophy (PACD) segregating in a large pedigree. METHODS. The authors performed clinical evaluation of a previously unreported pedigree with PACD, light and electron microscopic examination of an excised corneal button, genomewid...

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Main Authors: Aldave, Anthony J., Rosenwasser, George O. D., Yellore, Vivek S., Papp, Jeanette C., Sobel, Eric M., Pham, Michele N., Chen, Michael C., Dandekar, Sugandha, Sripracha, Ram, Rayner, Sylvia A., Sassani, Joseph W., Gorin, Michael B.
Format: Artigo
Sprog:Inglês
Udgivet: Association for Research in Vision and Ophthalmology, Inc. 2010
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2910638/
https://ncbi.nlm.nih.gov/pubmed/20357198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-4067
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