Issn Print: 1946-6234
Publication Date: 2015/06/10
Understanding disease pleiotropy: From puzzle to solution
Jean-Michel Rozet; Xavier Gérard
Author Information: Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, 75015 Paris, France.
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The total amount of functional mutant protein produced by cells underpins disease pleiotropy in the ciliopathies.