Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability-Reference-Cited by-同舟云学术

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

Published:2017-05 Issue:21 Volume:292 Page:8948-8963
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Vaidyanathan Krithika,Niranjan Tejasvi,Selvan Nithya,Teo Chin Fen,May Melanie,Patel Sneha,Weatherly Brent,Skinner Cindy,Opitz John,Carey John,Viskochil David,Gecz Jozef,Shaw Marie,Peng Yunhui,Alexov Emil,Wang Tao,Schwartz Charles,Wells Lance

Funder

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference73 articles.

1. The prevalence of mental retardation: a critical review of recent literature;Roeleveld;Dev. Med. Child. Neurol,1997

2. The epidemiology of mental retardation: challenges and opportunities in the new millennium;Leonard;Ment. Retard. Dev. Disabil. Res. Rev,2002

3. X linked mental retardation: a clinical guide;Raymond;J. Med. Genet,2006

4. [Intellectual disability: a frequent reason for referral to medical genetics];Otte;Praxis,2013

5. “Mental retardation” or “intellectual disability”: time for a conceptual change;Salvador-Carulla;Psychopathology,2008

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