Identification of an <i>Alu</i> element‐mediated deletion in the promoter region of <i><scp>GNE</scp></i> in siblings with <scp>GNE</scp> myopathy
Jennifer Garland(National Institutes of Health), May Christine V. Malicdan(National Institutes of Health), Bradley Class(National Institutes of Health), Joseph A. Shrader(National Institutes of Health Clinical Center), Nuria Carrillo(National Institutes of Health), Aarón Poliak(National Institutes of Health), John D. Heiss(National Institutes of Health), William A. Gahl(National Institute of Child Health), Ralitza Gavrilova(Mayo Clinic), Marjan Huizing(National Human Genome Research Institute), Vandana Singhal(Johns Hopkins University), John Perreault(National Institutes of Health), Prashant Chittiboina(National Institutes of Health), Joshi Stephen(National Institutes of Health), Carla Ciccone(National Institutes of Health), Galen O. Joe(National Institutes of Health Clinical Center), Christina Hayes(National Institutes of Health), Angela Gruber, Christina Slota(National Institutes of Health)
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