Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

Biochemical and Biophysical Research Communications

Volumn 339, Issue 3, 2006, Pages 755-760

  Eklund, Erik A ^a   Sun, Liangwu ^a   Yang, Samuel P ^b   Pasion, Romela M ^c   Thorland, Erik C ^d   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b GenetiCare Medical Associates   (United States)

^c Sutter Medical Center   (United States)

^d MAYO CLINIC   (United States)

Author keywords

CDG Ic; Developmental delay; Genomic deletion; Germ line mutation; hALG6

Indexed keywords

DNA MARKER; LIPOOLIGOSACCHARIDE;

ALG 6 GENE; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1C; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; KARYOTYPE; MICROSATELLITE MARKER; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GLUCOSYLTRANSFERASES; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MUTATION;

EID: 28844503729     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.11.073     Document Type: Article

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