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Nucleosides, Nucleotides & Nucleic Acids Volume 36, 2017 - Issue 5
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Original Articles

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene

Khue Vu NguyenDepartment of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, CA, USA;Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA, USACorrespondence[email protected]
,
Karen LeydikerDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA
,
Raymond WangDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA
,
Jose AbdenurDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA
&
William L. NyhanDepartment of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA, USA
Pages 317-327 | Received 27 Jul 2016, Accepted 24 Nov 2016, Published online: 19 Jan 2017

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