Article
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Human molecular genetics - 1 Mar 2002
Westphal Vibeke, Kjaergaard Susanne, Schollen Els, Martens Kevin, Grunewald Stephanie, Schwartz Marianne, Matthijs Gert, Freeze Hudson H
Abstract excerpt
Single nucleotide polymorphisms occur throughout the human genome. A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase. We show that this change reduces the ability of the gene product to rescue defective glycosylation of an alg6-deficient strain of Saccharomyces...
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