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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2010
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Articles
Acesso em linha: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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