Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Nature Genetics

Volumn 44, Issue 5, 2012, Pages 581-585

  Roscioli, Tony ^a,b   Kamsteeg, Erik Jan ^a   Buysse, Karen ^a   Maystadt, Isabelle ^c   Van Reeuwijk, Jeroen ^a   Van Den Elzen, Christa ^a   Van Beusekom, Ellen ^a   Riemersma, Moniek ^a,d   Pfundt, Rolph ^a   Vissers, Lisenka E L M ^a   Schraders, Margit ^a   Altunoglu, Umut ^e   Buckley, Michael F ^a   Brunner, Han G ^a   Grisart, Bernard ^c   Zhou, Huiqing ^a   Veltman, Joris A ^a   Gilissen, Christian ^a   Mancini, Grazia M S ^f   Delrée, Paul ^c   Willemsen, Michél A ^d   Ramadža, Danijela Petković ^g   Chitayat, David ^h,i   Bennett, Christopher ^j   Sheridan, Eamonn ^j   Peeters, Els A J ^k   Tan Sindhunata, Gita M B ^l   De Die Smulders, Christine E ^m   Devriendt, Koenraad ⁿ   Kayserili, Hülya ^e   El Hashash, Osama Abd El Fattah ^o,p   Stemple, Derek L ^q   Lefeber, Dirk J ^d   Lin, Yung Yao ^q   Van Bokhoven, Hans ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ISTANBUL UNIVERSITY   (Turkey)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g KBC Zagreb   (Croatia)

^h MOUNT SINAI HOSPITAL   (Canada)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

^j ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^k MEDICAL CENTER HAAGLANDEN   (Netherlands)

^l VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^m MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁿ UNIVERSITY OF LEUVEN   (Belgium)

^o FARWANIYA HOSPITAL   (Kuwait)

^p MINISTRY OF HEALTH   (Egypt)

^q WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; ISPD PROTEIN; NUCLEOTIDYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; GENE MUTATION; GENE SILENCING; HUMAN; HYDROCEPHALUS; MUSCLE ATROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SARCOLEMMA; VERTEBRATE; WALKER WARBURG SYNDROME; ZEBRA FISH;

ANIMALS; BRAIN; CHILD, PRESCHOOL; DYSTROGLYCANS; EMBRYO, NONMAMMALIAN; EYE; GLYCOSYLATION; HUMANS; MANNOSYLTRANSFERASES; MUSCLE FIBERS, SKELETAL; MUTATION; WALKER-WARBURG SYNDROME; ZEBRAFISH;

BACTERIA (MICROORGANISMS); CHORDATA; DANIO RERIO; VERTEBRATA;

EID: 84860322514     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2253     Document Type: Article

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