Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome

Human Molecular Genetics

Volumn 22, Issue 9, 2013, Pages 1746-1754

  Buysse, Karen ^a   Riemersma, Moniek ^a,b   Powell, Gareth ^d   Van reeuwijk, Jeroen ^a   Chitayat, David ^e,f   Roscioli, Tony ^a,g   Kamsteeg, Erik Jan ^a   Van den elzen, Christa ^a   Van beusekom, Ellen ^a   Blaser, Susan ^f   Babul Hirji, Riyana ^f   Halliday, William ^e,f   Wright, Gavin J ^d   Stemple, Derek L ^d   Lin, Yung Yao ^d,h   Lefeber, Dirk J ^b   Van bokhoven, Hans ^a,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e MOUNT SINAI HOSPITAL   (Canada)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

^h QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SARCOGLYCAN; BETA 1,3 N ACETYLGLUCOSAMINYLTRANSFERASE 1; COMPLEMENTARY DNA; CREATINE KINASE; MEROSIN; N ACETYLGLUCOSAMINYLTRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BRAIN STEM; CEREBELLUM; COBBLESTONE LISSENCEPHALY; CREATINE KINASE BLOOD LEVEL; GENE EXPRESSION; GENE OVEREXPRESSION; GENE SILENCING; GLYCOSYLATION; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PATHOGENICITY; PRIORITY JOURNAL; RETINA MALFORMATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; TEMPORAL LOBE; WALKER WARBURG SYNDROME; WHITE MATTER;

ANIMALS; CELL LINE, TUMOR; CHROMOSOME MAPPING; COHORT STUDIES; DYSTROGLYCANS; FEMALE; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; GLYCOSYLATION; HOMOZYGOTE; HUMANS; INFANT; LAMININ; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; PHENOTYPE; PROTEIN BINDING; WALKER-WARBURG SYNDROME; ZEBRAFISH;

DANIO RERIO;

EID: 84875953109     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt021     Document Type: Article

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