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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

Author:

John F. Staropoli,Amel Karaa,Elaine T. Lim,Andrew Kirby,Naser Elbalalesy,Stephen G. Romansky,Karen B. Leydiker,Scott H. Coppel,Rosemary Barone,Winnie Xin,Marcy E. MacDonald,Jose E. Abdenur,Mark J. Daly,Katherine B. Sims,Susan L. Cotman

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

13 July 2012

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