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

American Journal of Medical Genetics, Part A

Volumn 173, Issue 11, 2017, Pages 2906-2911

  Ng, Bobby G ^a   Asteggiano, Carla G ^b   Kircher, Martin ^c   Buckingham, Kati J ^d   Raymond, Kimiyo ^e   Nickerson, Deborah A ^c   Shendure, Jay ^c   Bamshad, Michael J ^c,d   Ensslen, Matthias ^f   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b FACULTAD DE CIENCIAS MÉDICAS   (Argentina)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e Mayo Clinic   (United States)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

congenital disorders of glycosylation; golgi; nucleotide sugar transporter; seizures; sialic acid; SLC35A1

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; SIALIC ACID; SLC35A1 PROTEIN; UNCLASSIFIED DRUG; N ACETYLNEURAMINIC ACID; NUCLEOTIDE TRANSPORTER; SLC35A1 PROTEIN, HUMAN;

ADULT; ARTICLE; BRAIN DISEASE; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GOLGI COMPLEX; HETEROZYGOTE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SLC35A1 GENE; WHOLE EXOME SEQUENCING; ANIMAL; CASE REPORT; CHILD; CHO CELL LINE; CRICETULUS; FLOW CYTOMETRY; GENETICS; HAMSTER; METABOLISM; MUTATION; PATHOPHYSIOLOGY;

ANIMALS; BRAIN DISEASES; CHILD; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; FLOW CYTOMETRY; GOLGI APPARATUS; HUMANS; MUTATION; N-ACETYLNEURAMINIC ACID; NUCLEOTIDE TRANSPORT PROTEINS; WHOLE EXOME SEQUENCING;

EID: 85028577285     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38412     Document Type: Article

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