Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

Journal of Medical Genetics

Volumn 50, Issue 11, 2013, Pages 733-739

  Edvardson, Simon ^a   Ashikov, Angel ^b   Jalas, Chaim ^c   Sturiale, Luisa ^d   Shaag, Avraham ^a   Fedick, Anastasia ^e   Treff, Nathan R ^e,f   Garozzo, Domenico ^d   Gerardy Schahn, Rita ^b   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c Bonei Olam Center for Rare Jewish Diseases   (United States)

^d CNR   (Italy)

^e RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^f REPRODUCTIVE MEDICINE ASSOCIATES OF NEW JERSEY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPEPTIDASE; SLC35A3 PROTEIN; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ARTHROGRYPOSIS; ARTICLE; AUTISM; CLINICAL ARTICLE; ENZYME ANALYSIS; EPILEPSY; EXOME; GENE MUTATION; GOLGI COMPLEX; HUMAN; LABORATORY TEST; LIMB MALFORMATION; LINKAGE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SPONTANEOUS MUTATION; SUGAR TRANSPORT;

BOS;

NEUROLOGY;

ANIMALS; ARTHROGRYPOSIS; CATTLE; CELLS, CULTURED; CHILD DEVELOPMENT DISORDERS, PERVASIVE; EPILEPSY; FEMALE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; NUCLEOSIDE DIPHOSPHATE SUGARS; PEDIGREE;

EID: 84890178759     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101753     Document Type: Article

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