The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

Journal of Human Genetics

Volumn 46, Issue 9, 2001, Pages 547-548

  Vuillaumier Barrot, Sandrine ^a   Le Bizec, Christiane ^a   Durand, Geneviève ^a   Seta, Nathalie ^a  

^a BICHAT HOSPITAL   (France)

Author keywords

1,3 Glucosyltransferase; ALG6; CDG; Congenital disorder of glycosylation Ic; F304S; Polymorphism

Indexed keywords

DNA; GLUCOSYLTRANSFERASE; GLYCOPROTEIN;

ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION 1C; CONTROLLED STUDY; FRANCE; GENE FREQUENCY; GENE MUTATION; GENETIC DISORDER; GENOTYPE; GLYCOSYLATION; HOMOZYGOSITY; HUMAN; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; AMINO ACID SUBSTITUTION; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GENE FREQUENCY; GENOTYPE; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0034843229     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170038     Document Type: Article

References (4)

1. Congenital disorder of glycosylation-Ic: Case report and genetic defect
2. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
3. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
4. Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic