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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107197/
https://www.ncbi.nlm.nih.gov/pubmed/21655088
http://dx.doi.org/10.1371/journal.pgen.1002104

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