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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

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author: David N. Cooper  Graziella Uziel  Catherine Vaurs-Barrière  Antonio Percesepe  Matthew Mort  Andrea Rossi  Enrico Bertini 

Publication date June 16, 2011
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