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Jesús Argente, Raquel Flores, Armand Gutiérrez-Arumí, Bhupendra Verma, Gabriel Á Martos-Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander and Luis A Pérez-Jurado Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency EMBO Molecular Medicine 6

Version of Record online: 30 JAN 2014 | DOI: 10.1002/emmm.201303573

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This is the first report of the implication of a minor spliceosome mutation in human disease. Specifically, isolated growth hormone deficiency due to a pituitary development defect affecting somatotrophs can derive from aberrant RNA splicing by RNPC3.

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