Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type i

Journal of Inherited Metabolic Disease

Volumn 34, Issue 4, 2011, Pages 901-906

  Guillard, Mailys ^a   Wada, Yoshinao ^b   Hansikova, Hana ^d   Yuasa, Isao ^c   Vesela, Katerina ^d   Ondruskova, Nina ^d   Kadoya, MacHiko ^b   Janssen, Alice ^a   Van Den Heuvel, Lambertus P W J ^a   Morava, Eva ^a   Zeman, Jiri ^d   Wevers, Ron A ^a   Lefeber, Dirk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ASIALOTRANSFERRIN; SIALIDASE; TRANSFERRIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; DIAGNOSTIC VALUE; DNA ISOLATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; ISOELECTRIC FOCUSING; MALE; MASS SPECTROMETRY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MUTATIONAL ANALYSIS; PEPTIDE ANALYSIS; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN GLYCOSYLATION; PROTEIN PURIFICATION;

CATALYTIC DOMAIN; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; HUMANS; ISOELECTRIC FOCUSING; MALE; MODELS, BIOLOGICAL; MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; TRANSFERRIN;

EID: 79961168906     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9311-y     Document Type: Article

References (13)

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