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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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Détails bibliographiques
Auteurs principaux: Jeong Eun Park, Alexander I Son, Rui Hua, Lianqing Wang, Xue Zhang, Renping Zhou
Format: Artigo
Langue:Inglês
Publié: Public Library of Science (PLoS) 2012-01-01
Collection:PLoS ONE
Accès en ligne:http://europepmc.org/articles/PMC3343017?pdf=render
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