engleski

Congenital disorders of glycosylation Ia and Ic in Croatian population

Congenital disorders of glycosylation Ia and Ic are caused ba mutation in PMM2 and ALG6 genes. Mutation R141H of PMM2 gene were prescreened on limitted subjects of Croatian population by using SSCP and identity of prescreened mutations will be confirmed by sequencing.

CDG Ia; CDG Ic; inherited metabolic disorder; PMM2; ALG6 gene; R141H mutation

nije evidentirano