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A Knock-In Mouse Model for the R120G Mutation of αB-Crystallin Recapitulates Human Hereditary Myopathy and Cataracts

An autosomal dominant missense mutation in αB-crystallin (αB-R120G) causes cataracts and desmin-related myopathy, but the underlying mechanisms are unknown. Here, we report the development of an αB-R120G crystallin knock-in mouse model of these disorders. Knock-in αB-R120G mice were generated and an...

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Detalhes bibliográficos
Main Authors: Andley, Usha P., Hamilton, Paul D., Ravi, Nathan, Weihl, Conrad C.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060869/
https://ncbi.nlm.nih.gov/pubmed/21445271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0017671
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