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

Autor: Vuillaumier-Barrot, Sandrine, Le Bizec, Christiane, Durand, Geneviève, Seta, Nathalie
Zdroj: Journal of Human Genetics. 2001, Vol. 46 Issue 9, p547. 2p.
Databáze: Academic Search Ultimate