Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

American Journal of Human Genetics

Volumn 85, Issue 1, 2009, Pages 76-86

  Lefeber, Dirk J ^a   Schönberger, Johannes ^b   Morava, Eva ^a   Guillard, Mailys ^a   Huyben, Karin M ^a   Verrijp, Kiek ^a   Grafakou, Olga ^c   Evangeliou, Athanasios ^d   Preijers, Frank W ^a   Manta, Panagiota ^e   Yildiz, Jef ^a   Grünewald, Stephanie ^f   Spilioti, Martha ^g   van den Elzen, Christa ^a   Klein, Dominique ^h   Hess, Daniel ^h   Ashida, Hisashi ⁱ   Hofsteenge, Jan ^h   Maeda, Yusuke ^j   van den Heuvel, Lambert ^a   Lammens, Martin ^a   Lehle, Ludwig ^b   Wevers, Ron A ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c Rethymnon General Hospital   (Greece)

^d ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^e UNIVERSITY OF ATHENS   (Greece)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g UNIVERSITY OF CRETE   (Greece)

^h FRIEDRICH MIESCHER INSTITUTE FOR BIOMEDICAL RESEARCH   (Switzerland)

ⁱ KYOTO UNIVERSITY   (Japan)

^j OSAKA UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; DOLICHOL PHOSPHATE MANNOSE;

ANIMAL CELL; ARTICLE; CATALYSIS; CELL MEMBRANE; CONGENITAL DISORDER; CONTROLLED STUDY; DYSTROGLYCANOPATHY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FEMALE; GENE SEQUENCE; GENETIC TRANSFECTION; GLYCOSYLATION; HUMAN; MISSENSE MUTATION; MUSCULAR DYSTROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEFICIENCY; PROTEIN SYNTHESIS;

DOLICHOL MONOPHOSPHATE MANNOSE; DYSTROGLYCANS; FEMALE; GLYCOSYLATION; HUMANS; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES;

EID: 67649584051     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.06.006     Document Type: Article

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