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Identification and Glycerol-Induced Correction of Misfolding Mutations in the X-Linked Mental Retardation Gene CASK

The overwhelming amount of available genomic sequence variation information demands a streamlined approach to examine known pathogenic mutations of any given protein. Here we seek to outline a strategy to easily classify pathogenic missense mutations that cause protein misfolding and are thus good c...

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Detalhes bibliográficos
Main Authors: LaConte, Leslie E. W., Chavan, Vrushali, Mukherjee, Konark
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914952/
https://ncbi.nlm.nih.gov/pubmed/24505460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0088276
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