Encephalopathy caused by novel mutations in the CMP-sialic acid transporter,SLC35A1-Reference-Cited by-同舟云学术

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter,SLC35A1

Published:2017-08-29 Issue:11 Volume:173 Page:2906-2911
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ng Bobby G.¹^ORCID,Asteggiano Carla G.²,Kircher Martin³,Buckingham Kati J.⁴,Raymond Kimiyo⁵,Nickerson Deborah A.³,Shendure Jay³⁶,Bamshad Michael J.³⁴,Ensslen Matthias⁷,Freeze Hudson H.¹,

Affiliation:

1. Human Genetics Program; Sanford Burnham Prebys Medical Discovery Institute; La Jolla California

2. CONICET - Centro de Estudio de las Metabolopatías Congénitas; Universidad Nacional de Córdoba; Facultad de Medicina; Universidad Católica de Córdoba; Córdoba Argentina

3. Department of Genome Sciences; University of Washington; Seattle Washington

4. Department of Pediatrics; University of Washington; Seattle Washington

5. Biochemical Genetics Laboratory; Mayo Clinic College of Medicine; Rochester Minnesota

6. Howard Hughes Medical Institute; University of Washington; Seattle Washington

7. Department of Paediatric Neurology and Developmental Medicine; Hauner Children's Hospital; University of Munich Lindwurmstrasse 4; Munich Germany

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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5. Mutants of the CMP-sialic acid transporter causing the Lec2 phenotype;Eckhardt;The Journal of Biological Chemistry,1998

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