Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J

CMT4J is a severe form of Charcot-Marie-Tooth neuropathy caused by mutation of the phosphoinositide phosphatase FIG4/SAC3. Affected individuals are compound heterozygotes carrying the missense allele FIG4-I41T in combination with a null allele. Analysis using the yeast two-hybrid system demonstrated...

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Detalhes bibliográficos
Main Authors: Lenk, Guy M., Ferguson, Cole J., Chow, Clement Y., Jin, Natsuko, Jones, Julie M., Grant, Adrienne E., Zolov, Sergey N., Winters, Jesse J., Giger, Roman J., Dowling, James J., Weisman, Lois S., Meisler, Miriam H.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3107197/
https://ncbi.nlm.nih.gov/pubmed/21655088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002104
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