Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Human Genetics

Volumn 106, Issue 5, 2000, Pages 538-545

  Imbach, Timo ^a   Grünewald, Stephanie ^b   Schenk, Barbara ^c   Burda, Patricie ^c,g   Schollen, Els ^b   Wevers, Ron A ^d   Jaeken, Jaak ^e   De Klerk, Johannis B C ^f   Berger, Eric G ^a   Matthijs, Gert ^b   Aebi, Markus ^c   Hennet, Thierry ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b Center for Human Genetics   (Belgium)

^c ETH ZURICH   (Switzerland)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Department of Pediatrics ^*  (Belgium)

^f SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCAN; GLYCOPROTEIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE CLASSIFICATION; FIBROBLAST; FOUNDER EFFECT; GENE MUTATION; GLYCOSYLATION; HAPLOTYPE; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0342368217     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000293     Document Type: Article

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