Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.

Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 05 26; 292(21):8948-8963.

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subject areas

Amino Acid Substitution
Cell Line, Transformed
Chromosomes, Human, X
Gene Expression Regulation, Enzymologic
Glycosylation
Humans
Male
Mental Retardation, X-Linked
Mutation, Missense
N-Acetylglucosaminyltransferases
Protein Processing, Post-Translational
RNA, Messenger

authors with profiles

Emil Georgiev Alexov