Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages

  Jaeken, Jaak ^a   Lefeber, Dirk ^b   Matthijs, Gert ^c  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN; CHITOBIOSYLDIPHOSPHODOLICHOL BETA-MANNOSYLTRANSFERASE; MANNOSYLTRANSFERASE;

ALG1 GENE; CAPILLARY ZONE ELECTROPHORESIS; CONGENITAL DISORDER OF GLYCOSYLATION; COST EFFECTIVENESS ANALYSIS; ENZYME DEFICIENCY; EXON; FAMILY HISTORY; GENE; GENE SEQUENCE; GENETIC CODE; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GLYCOSYLATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ISOELECTRIC FOCUSING; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NOTE; PHENOTYPE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL; GENETICS; MUTATION;

CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; HUMANS; MANNOSYLTRANSFERASES; MUTATION;

EID: 84944150163     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.9     Document Type: Note

References (14)

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