Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih

Molecular Genetics and Metabolism

Volumn 98, Issue 3, 2009, Pages 305-309

  Stölting, Torsten ^a   Omran, Heymut ^b   Erlekotte, Anne ^a   Denecke, Jonas ^c   Reunert, Janine ^a   Marquardt, Thorsten ^a  

^a Klinik Für Kinder Und Jugendmedizin   (Germany)

^b Zentrum für Kinder und Jugendmedizin   (Germany)

^c EMAU Greifswald   (Germany)

Author keywords

ALG8; CDG Ih; Congenital disorders of glycosylation; Inherited metabolic disease

Indexed keywords

ASPARAGINE LINKED GLYCOSYLATION 8; GENE PRODUCT; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; CHILD; CODON; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1H; CONTROLLED STUDY; EPICANTHUS; FEMALE; FRAMESHIFT MUTATION; GENETIC CONSERVATION; GYNECOMASTIA; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SIBLING;

CARBOHYDRATE METABOLISM, INBORN ERRORS; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; MUTATION; PHENOTYPE; SIBLINGS;

EID: 70349733006     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.06.010     Document Type: Article

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