Human Cataract Mutations in EPHA2 SAM Domain Alter Receptor Stability and Function

The cellular and molecular mechanisms underlying the pathogenesis of cataracts leading to visual impairment remain poorly understood. In recent studies, several mutations in the cytoplasmic sterile-α-motif (SAM) domain of human EPHA2 on chromosome 1p36 have been associated with hereditary cataracts...

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Detalles Bibliográficos
Autores principales: Park, Jeong Eun, Son, Alexander I., Hua, Rui, Wang, Lianqing, Zhang, Xue, Zhou, Renping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343017/
https://www.ncbi.nlm.nih.gov/pubmed/22570727
http://dx.doi.org/10.1371/journal.pone.0036564

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