Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma

PURPOSE: Analysis of mutant mouse strains and linkage analysis with human families have both demonstrated that mutations influencing the podosomal adaptor protein SH3 and PX domains 2B (SH3PXD2B) can result in a congenital form of glaucoma. Here, we use immunohistochemistry to describe localization...

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Detalles Bibliográficos
Autores principales: Mao, Mao, Solivan-Timpe, Frances, Roos, Ben R., Mullins, Robert F., Oetting, Thomas A., Kwon, Young H., Brzeskiewicz, Peter M., Stone, Edwin M., Alward, Wallace L.M., Anderson, Michael G., Fingert, John H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324357/
https://www.ncbi.nlm.nih.gov/pubmed/22509100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324357/
https://www.ncbi.nlm.nih.gov/pubmed/22509100

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