Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, <i>SLC35A1</i>
Bobby G. Ng(Sanford Burnham Prebys Medical Discovery Institute), Hudson H. Freeze(Discovery Institute), Carla Asteggiano(Universidad Católica de Córdoba), Michael J. Bamshad(University of Washington), Kati J. Buckingham(Pediatrics and Genetics), Matthias Ensslen(München Klinik), Martin Kircher(University Hospital Schleswig-Holstein), Jay Shendure(Brotman Baty Institute), Deborah A. Nickerson(University of Washington), Kimiyo Raymond(Mayo Clinic in Arizona)
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