Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity...

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Detalhes bibliográficos
Main Authors: Chow, Clement Y., Landers, John E., Bergren, Sarah K., Sapp, Peter C., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., Meisler, Miriam H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668033/
https://ncbi.nlm.nih.gov/pubmed/19118816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.12.010
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