Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

American Journal of Human Genetics

Volumn 71, Issue 5, 2002, Pages 1033-1043

  De Bernabé, Daniel Beltrán Valero ^a   Currier, Sophie ^b   Steinbrecher, Alice ^c,d   Celli, Jacopo ^a   Van Beusekom, Ellen ^a   Van der Zwaag, Bert ^a   Kayserili, Hülya ^e   Merlini, Luciano ^f   Chitayat, David ^g   Dobyns, William B ^h   Cormand, Bru ⁱ   Lehesjoki, Ana Elina ^j   Cruces, Jesús ^k   Voit, Thomas ^d   Walsh, Christopher A ^b   Van Bokhoven, Hans ^a   Brunner, Han G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HARVARD MEDICAL SCHOOL   (United States)

^c FREIE UNIVERSITÄT BERLIN   (Germany)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e ISTANBUL UNIVERSITY   (Turkey)

^f RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ UNIVERSITY OF BARCELONA   (Spain)

^j UNIVERSITY OF HELSINKI   (Finland)

^k AUTONOMOUS UNIVERSITY OF MADRID   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSYLTRANSFERASE;

AGYRIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL MIGRATION; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; MULTIGENE FAMILY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; WALKER WARBURG SYNDROME;

EID: 0038185363     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342975     Document Type: Article

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