Article
Identification of the first COG-CDG patient of Indian origin.
Molecular genetics and metabolism - 1 Mar 2011
Ng Bobby G, Sharma Vandana, Sun Liangwu, Loh Eva, Hong Wanjin, Tay Stacey K H, Freeze Hudson H
Abstract excerpt
Mutations in the Conserved Oligomeric Golgi (COG) complex give rise to type II congenital disorders of glycosylation (CDG). Thus far, mutations have been identified in 6 of the 8 COG subunits. Here we present data identifying a previously reported CDG-IIx case from Singapore as a new COG4 patient...
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